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Glossary for Neuromuscular conditions

  • Adult SMA: Form of Spinal Muscular Atrophy in adults.
  • Adult progressive spinal muscular atrophy, Aran Duchenne type: A group of inherited motor neuron diseases involving progressive muscle weakness, wasting and paralysis due to degeneration of motor neurons in the spinal cord. Muscle weakness and wasting usually starts in the hands and may gradually spread to other muscle groups.
  • Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
  • Alternating Hemiplegia: Episodes of one-sided paralysis.
  • Alternating hemiplegia of childhood: A rare neurological disorder involving paralysis on one side of the body that is only temporary but occurs often. The extent of the paralysis is variable.
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Amyotrophic lateral sclerosis: A motor neuron disease involving progressive degeneration and eventual destruction of the function of nerves that control voluntary movement.
  • Amyotrophic lateral sclerosis 2, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 2 is caused by a defect on chromosome 2q33.
  • Amyotrophic lateral sclerosis 3: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 3 is caused by a defect on chromosome 18q21.
  • Amyotrophic lateral sclerosis 4, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 4 is caused by a defect on chromosome 9q34.
  • Amyotrophic lateral sclerosis 5: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 5 is caused by a defect on chromosome 15q15.1-q21.1.
  • Amyotrophic lateral sclerosis 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophic lateral sclerosis 7: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 7 is caused by a defect on chromosome 20p13.
  • Amyotrophic lateral sclerosis 8: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 9 is caused by a defect on chromosome 20q13.3 and is a dominantly inherited, late-onset form.
  • Amyotrophic lateral sclerosis type 1:
  • Amyotrophic lateral sclerosis, 11: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 11 is differentiated by the origin of the genetic defect involved (6q21).
  • Amyotrophic lateral sclerosis, 9: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 9 is differentiated by the origin of the genetic defect involved (14q11).
  • Amyotrophic lateral sclerosis, familial:
  • Amyotrophic lateral sclerosis, familial type 1: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 1 is characterized by adult onset and relatively fast progression of symptoms. It usually occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 2: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 2 is characterized by childhood or adolescent onset of symptoms which progress very slowly over decades. It occurs in an autosomal recessive pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 3: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 3 is characterized late adulthood onset of symptoms which progress slowly over 5 years. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 4: A generally fatal progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 4 is characterized by the onset of symptoms before the age of 25 and slow progression over the next few decades. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 5: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adolescent onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal recessive pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 6: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adult onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 7: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 7 is characterized adult onset of symptoms with progression varying between less than 5 years to several decades. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 8: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 8 is characterized by adult onset and relatively slow progression of symptoms. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, type 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex: A nerve degeneration disorder that involves progressive dementia and parkinsonism which ultimately leads to death.
  • Amyotrophic lateral sclerosis-parkinsonism/dementia complex 2: A nerve degeneration disorder that involves progressive dementia and parkinsonism which ultimately leads to death.
  • Amyotrophy, neurogenic scapuloperoneal, New England type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The exact symptoms that occur may vary from patient to patient with males often being more affected than females. An interesting observation of this condition is that symptoms and rate of progression tends to be more severe with each passing generation.
  • Anotia -- facial palsy -- cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
  • Arthrogryposis -- ophthalmoplegia -- retinopathy: A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems.
  • Arthrogryposis -- spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth.
  • Arthrogryposis due to muscular dystrophy: A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth.
  • Athetoid Cerebral Palsy: Cerebral palsy is movement disorder originating from some sort of damage to the brain. There are a few different types of cerebral palsy e.g. spastic, athetoid and ataxic. Athetoid cerebral palsy is characterized by athetoid movements which are slow, writhing involuntary muscle movements.
  • Autonomic Dysreflexia: A complication of spinal cord injury where a particular stimulus can trigger an excessive response from the autonomic nervous system which causes blood pressure to rise - sometimes to dangerous levels. Stimuli that can trigger the response include bladder irritation, bowel irritation (e.g. due to constipation, gas, enema), skin irritation (e.g. due to burns, pressure sores, ingrown toenails), broken bones, tight clothing, labour and temperature extremes. The severity and frequency of the condition is highly variable. The condition occurs in patients with tetraplegia or with loss of sensation above the lower rib cage.
  • Autosomal Dominant Charcot-Marie-Tooth with hearing loss: A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs.
  • Autosomal recessive limb-girdle muscular dystrophy, type 2G:
  • Autosomal recessive spastic paraplegia, type 11:
  • Bahemuka Brown syndrome: A very rare syndrome characterized by spastic paraplegia and skin pigmentation irregularities.
  • Batten Disease: Rare childhood genetic degenerative nerve system disease.
  • Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
  • Becker disease: A rare inherited neuromuscular disorder characterized by muscle stiffness when movement is initiated and difficulty relaxing muscles after movement had occurred. Becker disease is a recessively inherited form of myotonia congenita and usually occurs later in childhood than the dominantly inherited form and muscle stiffness is usually more severe.
  • Becker's muscular dystrophy (BMD): A slowly progressing muscle wasting disease that affects mainly the hip and shoulder muscles.
  • Behr syndrome: A rare inherited neurological condition characterized by spastic paraplegia and sometimes optic atrophy.
  • Bell's Palsy: A usually temporary facial nerve disorder where a part or all of the face becomes suddenly paralysed.
  • Benign congenital hypotonia: A rare condition where an infant has a severe lack of muscle tone which progressively improves and usually disappears within 10 years.
  • Bielschowsky disease: An eye disorder where one eye tends to drift upwards while the other remains fixed.
  • Boucher-Neuhauser syndrome: A very rare disorder characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
  • Brody myopathy: A form of neuromuscular disease caused by a genetic defect. The muscles have difficulty relaxing after exercise or strong movements such as making a fist or forcefully closing eyes.
  • Cardiomyopathy -- hypotonia -- lactic acidosis: A rare syndrome characterized by heart muscle disease, reduced muscle tone and lactic acidosis from birth.
  • Carnitine Deficiency Syndromes: Syndromes associated with the deficiency of carnitine.
  • Carnitine Palmitoyl Transferase I Deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase 1) prevents fatty acids being transported to the part of the cell that converts it to energy.
  • Carnitine Palmitoyl Transferase II Deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase 1) prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine palmitoyl transferase 1 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase I) prevents fatty acids being transported to the part of the cell that converts it to energy.
  • Carnitine palmitoyl transferase 2 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. The infantile form of this disease affects the muscles and the liver and heart.
  • Carnitine palmitoyl transferase II deficiency, lethal neonatal form: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. The lethal neonatal form affects various organs as well as the muscles and death usually occurs during the first year of life.
  • Carnitine palmitoyl transferase II deficiency, myopathic: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. Prolonged exercise can cause an episode of muscle symptoms. The myopathic form of the condition is the least severe and tends to affect only the muscles.
  • Carnitine palmitoyl transferase deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine transporter deficiency: An inherited deficiency of carnitine caused by the impaired ability of the carnitine transporter protein to carry the carnitine to where it is needed. Instead the carnitine is excreted through the urine. Fasting or illness can trigger a severe attack.
  • Cerebellar ataxia -- areflexia -- pes cavus -- optic atrophy -- sensorineural hearing loss: A rare syndrome characterized mainly by ataxia, absent reflexes, high foot arch (pes cavus), progressive optic nerve degeneration and hearing impairment. The ataxic symptoms tended to occur early in life after an illness involving fevers. The ataxia then tends to come and go but then persists into adulthood. The severity of symptoms is variable.
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss: A rare syndrome characterized mainly by ataxia, absent reflexes, high foot arch (pes cavus), progressive optic nerve degeneration and hearing impairment. The ataxic symptoms tended to occur early in life after an illness involving fevers. The ataxia then tends to come and go but then persists into adulthood.
  • Cerebellar ataxia, infantile with progressive external ophthalmoplegia: A rare disorder characterized by cerebellar ataxia during infancy and progressive paralysis of eye muscles.
  • Cerebral Palsy: Any brain disorder causing movement disability
  • Cerebral Palsy, Ataxic, Autosomal Recessive: Ataxic cerebral palsy refers to an injury to the brain that results primarily in low muscle tone and poor coordination of movements. The ataxic autosomal recessive form is an inherited abnormality in the development of the brain which is linked to chromosome 9p12-q12
  • Cerebral Palsy, Spastic Quadriplegic, 1: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 1 refers to a developmental brain abnormality linked to the GAD1 gene on chromosome 2q31.
  • Cerebral Palsy, Spastic Quadriplegic, 2: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 2 refers to a developmental brain abnormality linked to the ANKRD15 gene on chromosome 9p24.3.
  • Cerebral Palsy, Spastic Quadriplegic, 3: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 3 refers to a developmental brain abnormality linked to the AP4M1 gene on chromosome 7q22.1.
  • Cerebral palsy, spastic, diplegic: Brain damage that involves muscle rigidity that occurs either in both arms or in both legs. The brain damage is often the result of a birth defect or some sort of trauma to the brain.
  • Ceroid lipofuscinosis, neuronal: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). The 10 different type of the disorder are distinguished by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
  • Ceroid lipofuscinosis, neuronal 10: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 10 involves a deficiency of cathepsin D and involves an initial period of normal development with neurodegenerative symptoms starting during the early school years.
  • Ceroid lipofuscinosis, neuronal 2, late infantile type: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (protease tri-peptidyl-peptidase) needed to process it.
  • Ceroid lipofuscinosis, neuronal 3, Juvenile: A progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapication within years and death within 10-15 years.
  • Ceroid lipofuscinosis, neuronal 4: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase 1) needed to process it.
  • Ceroid lipofuscinosis, neuronal 5: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 5 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 6, late infantile: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 6 usually occurs between the ages of 2 to 6 years. Type 6 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 7: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 7 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 8: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 8 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 8, northern epilepsy variant: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 8, northern epilepsy variant is distinguished from other types by the origin of the genetic defect. Mental retardation tended to occur by middle age despite normal development during the first few years of life.
  • Ceroid lipofuscinosis, neuronal 9: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 9 is distinguished from other types by the origin of the genetic defect.
  • Ceroid storage disease: A rare metabolic storage disease characterized by the abnormal deposits of a waxy substance called ceroid lipfuscin in various parts of the body such as the liver, spleen and intestinal lining.
  • Charcot disease: Charcot joint occurs in the presence of sensory or autonomic neuropathy and presents as progressive microtrauma resulting in joint destruction and deformity. It characteristically occurs in weight bearing joints such as the foot, ankle and knee.
  • Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
  • Charcot-Marie-Tooth disease (generic term): A group of inherited neurological disorders characterized by problems with the peripheral nerves. Muscle weakness, muscle wasting and sensory problems are the most common symptoms. The severity and age of onset of symptoms varies depending on the specific subtype of the disorder.
  • Charcot-Marie-Tooth disease -- deafness: Charcot-Marie-Tooth disease is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Charcot-Marie-Tooth disease and deafness involves the usual CMT symptoms as well as deafness.
  • Charcot-Marie-Tooth disease deafness recessive type: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.
  • Charcot-Marie-Tooth disease with ptosis and parkinsonism: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This particular type of CMT also involves a drooping upper eyelid and parkinsonism.
  • Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 5 has an autosomal dominant inheritance, progresses slowly and involves movement disorders.
  • Charcot-Marie-Tooth disease, Type 1A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1A is inherited as an autosomal dominant pattern and involves the duplication of the PMP22 gene on chromosome 17.
  • Charcot-Marie-Tooth disease, Type 1B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1B is inherited as an autosomal dominant pattern and involves a defect in the MPZ gene on chromosome 1. The severity of the condition is variable depending on the age of onset with severe infantile cases resulting in the inability to walk at an early age.
  • Charcot-Marie-Tooth disease, Type 1C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1C is inherited as an autosomal dominant pattern and involves a defect in the LITAF/SIMPLE gene on chromosome 16.
  • Charcot-Marie-Tooth disease, Type 1D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1D is caused by a defect of the ERG2 gene on chromosome 10 and usually results in a severe form of the disease.
  • Charcot-Marie-Tooth disease, Type 1E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness.
  • Charcot-Marie-Tooth disease, Type 1F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1F is caused by a defect of a gene in chromosome 8 and involves the neurofilament light chain protein.
  • Charcot-Marie-Tooth disease, Type 2A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
  • Charcot-Marie-Tooth disease, Type 2AI: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A1 has an autosomal dominant inheritance and involves a defect in the KIF1B gene on chromosome 1p36.
  • Charcot-Marie-Tooth disease, Type 2AII: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A2 has an autosomal dominant inheritance and involves a defect in the MFN2 gene on chromosome 1p36.
  • Charcot-Marie-Tooth disease, Type 2B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B has an autosomal dominant inheritance and involves a defect in the gene for the protein RAB 7 located on chromosome 3.
  • Charcot-Marie-Tooth disease, Type 2B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B1 has an autosomal dominant inheritance and involves a defect in the LMNA gene located on chromosome 1.
  • Charcot-Marie-Tooth disease, Type 2B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B2 has an autosomal dominant inheritance and involves a defect located on chromosome 19.
  • Charcot-Marie-Tooth disease, Type 2C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in chromosome 12 and involves diaphragm and vocal cord weakness as well as hand and foot problems.
  • Charcot-Marie-Tooth disease, Type 2D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2D has an autosomal dominant inheritance and involves a defect in the glycyl RNA synthetase gene on chromosome 7p15. The hands tend to be more severely affected than the feet.
  • Charcot-Marie-Tooth disease, Type 2E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in the neurofilament light gene on chromosome 8p21.
  • Charcot-Marie-Tooth disease, Type 2F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2F has an autosomal dominant inheritance and involves a defect in the HSPB1 gene on chromosome 7.
  • Charcot-Marie-Tooth disease, Type 2G: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2G has an autosomal dominant inheritance and involves a defect on chromosome 12.
  • Charcot-Marie-Tooth disease, Type 2H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2H has an autosomal recessive inheritance and involves a defect in the GDAP1 gene on chromosome 8.
  • Charcot-Marie-Tooth disease, Type 2I: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
  • Charcot-Marie-Tooth disease, Type 2J: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2J has an autosomal dominant inheritance and involves a defect on chromosome 1q22.
  • Charcot-Marie-Tooth disease, Type 2K: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2K has an autosomal dominant inheritance and involves a defect on chromosome 8.
  • Charcot-Marie-Tooth disease, Type 2L: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2L has an autosomal dominant inheritance and involves a defect in the HSPB8 gene on chromosome 12.
  • Charcot-Marie-Tooth disease, Type 4A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4A has an autosomal recessive inheritance and involves a defect in the GDAP 1 protein gene on chromosome 8. The recessive forms of CMT tend to be more severe than the dominant form and often involve hand and foot problems as well as additional systemic symptoms.
  • Charcot-Marie-Tooth disease, Type 4B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B1 has an autosomal recessive inheritance and involves a defect in MTMR2 gene on chromosome 11.
  • Charcot-Marie-Tooth disease, Type 4B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the CMT4B2 gene on chromosome 11.
  • Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This type is characterized by the involvement of glaucoma which starts during childhood.
  • Charcot-Marie-Tooth disease, Type 4C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the KIAA1985 gene on chromosome 5. It involves motor and sensory problems as well as scoliosis.
  • Charcot-Marie-Tooth disease, Type 4E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.
  • Charcot-Marie-Tooth disease, Type 4F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4F has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect in the PRX gene on Chromosome 19q13.
  • Charcot-Marie-Tooth disease, Type 4G: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4G has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect on Chromosome 10.
  • Charcot-Marie-Tooth disease, Type 4H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4H has an autosomal recessive form of inheritance and involves a defect on Chromosome 11.
  • Charcot-Marie-Tooth disease, X-linked: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.
  • Charcot-Marie-Tooth disease, X-linked recessive, 2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.
  • Charcot-Marie-Tooth disease, X-linked recessive, 4: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.
  • Charcot-Marie-Tooth disease, X-linked recessive, 5: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X5 is an inherited defect of the X chromosome and affects males to a greater degree than females. In addition to normal CMT symptoms it also involves deafness and eye problems.
  • Charcot-Marie-Tooth disease, X-linked, 1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X1 is an inherited defect of the X chromosome (defect in GJB1 gene) and affects males to a greater degree than females. Transient central nervous system symptoms are also sometimes involved.
  • Charcot-Marie-Tooth disease, demyelinating, autosomal dominant: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
  • Charcot-Marie-Tooth disease, dominant intermediate 1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in chromosome 10.
  • Charcot-Marie-Tooth disease, dominant intermediate 2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in the dynamin-2 gene on chromosome 19p13.2.
  • Charcot-Marie-Tooth disease, dominant intermediate 3: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in the tyrosyl-tRNA gene on chromosome 1p35.
  • Charcot-Marie-Tooth disease, type 1: A slow-progressing muscle disease characterized by muscle weakness and wasting that starts in the hands and feet. Very few patients become wheelchair dependent and life span is not affected. The disorder is inherited in an dominant pattern an involves demyelination of the nerves.
  • Charcot-Marie-Tooth disease, type 2: A rare inherited disorder characterized by abnormalities in the axon of the peripheral nerve cells instead of the myelin sheath coating of the nerves. The condition manifests as muscle weakness and wasting that usually starts in the legs and spreads to the hands and other parts of the body. The severity, age of onset and rate of progression of the condition varies depending on the genetic origin of the defect.
  • Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
  • Charcot-Marie-Tooth type 1 aplasia cutis congenital: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This form of the condition is inherited recessively and involves only mild muscle symptoms as well as a scalp defect.
  • Charcot-Marie-Tooth, demyelinating, autosomal recessive: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritance and is a severe form of the disease.
  • Chvostek's sign: Indication of tetany which occurs when tapping over the facial nerve.
  • Coarse face -- hypotonia -- constipation: A very rare syndrome characterized by coarse facial features, poor muscle tone and constipation.
  • Congenital Muscular Dystrophy: Muscle weakness and wasting that starts at birth or around the time of birth. The severity and extent of muscle involvement is greatly variable.
  • Congenital Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease which usually results from autoimmune dysfunction. Congenital myasthenia gravis however results from a genetic defect. Symptoms tend to become worse during the day with activity and improve after rest or after sleeping. The severity of symptoms may vary.
  • Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
  • Congenital benign spinal muscular atrophy dominant: A very rare syndrome characterized by non-progressive muscle weakness that affects mainly the legs.
  • Congenital hypomyelination neuropathy: A rare neurological disorder that is apparent at birth and is characterized by breathing difficulty and muscle problems.
  • Congenital ichthyosis, microcephalus, quadriplegia: A rare birth disorder characterized by scaly skin, small head and paralysis of legs and arms.
  • Congenital muscular dystrophy syringomyelia: A very rare disorder characterized by muscle weakness and wasting from birth, a severely deformed spine and syringomyelia (cyst in the spinal cord).
  • Congenital myasthenic syndromes: A group of genetic condition characterized by abnormal neuromuscular signals. Symptoms tend to become worse with exertion.
  • Congenital myotonic dystrophy: A form of muscular dystrophy which is usually apparent at birth or within a few years. and affects the skeletal muscles, heart conduction, smooth muscle, eyes and the central nervous system. The range of severity varies from asymptomatic to fetal death.
  • Corpus callosum agenesis-neuropathy: A rare genetic disorder involving mental retardation, progressive neuropathy and absence of the fibers that connect the two halves of the brain together.
  • Deafness conductive stapedial ear malformation facial palsy: A rare disorder characterized by conductive deafness, malformed external ears and facial paralysis. The deafness is due to an abnormal bone (stapes) in the inner ear which vibrates to transmit sound messages.
  • Deafness, Conductive Stapedial, With Ear Malformation and Facial Palsy: A rare syndrome characterized by an ear abnormality (due to a stapedial defect) which causes conductive deafness as well as malformed external ears and facial paralysis. The degree and extent of facial paralysis is variable - can affect only one side of face or may be a weakness rather than a paralysis.
  • Decreased ankle and knee reflexes: deep tendon reflexes are tonic contraction of the muscles in response to a stretching force, due to stimulation of muscle proprioceptors. Also called myotatic reflex, these may decrease in certain conditions
  • Decreased reflex response: tendon reflexes that are slower or of decreased size than that expected; or completely absent
  • Decreased reflexes: Tendon reflexes that are slower or of decreased size than that expected; or completely absent.
  • Dejerine-Sottas Syndrome: A condition characterized by a progressive hyperplasia of the interstitial connective tissue causing thickening of the peripheral nerve
  • Dejerine-Sottas disease: An inherited, progressive, hypertrophic nervous system disorder which affects limb function.
  • Deposition diseases related fibromyalgia: Deposition diseases related fibromyalgia refers to fibromyalgia that is associated with deposition diseases. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Deposition diseases involve the abnormal deposit of material in parts of the body such as the joints e.g. gout.
  • Desmin related myopathy: A very rare neuromuscular disorder involving the buildup of a certain protein called desmin in various muscles. The severity and rate of progression of the disorder is variable.
  • Developmental malformations -- deafness -- dystonia: A rare syndrome characterized mainly by deafness, movement disorder and malformations that occur during fetal development.
  • Down's syndrome-like hypotonia: Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength.
  • Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
  • Dystonia 1, Torsion, Autosomal Dominant: A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
  • Dystonia 12: A very rare syndrome involving the early start of symptoms of dystonia and parkinsonism. The onset of the symptoms usually occurs suddenly over weeks or even hours and then progresses slowly.
  • Dystonia 13, torsion: A rare genetic movement disorder. The muscles contract involuntarily causing repetitive twisting movements. Type 13 is caused by a genetic defect on chromosome 1p36.32-p36.13. Symptoms start in the upper body or arms and progresses to other parts of the body. The severity of the disorder is variable.
  • Dystonia 14: A rare genetic movement disorder. The muscles contract involuntarily causing involuntary movements. Type 14 is caused by a genetic defect on chromosome 14q13.
  • Dystonia 15, myoclonic: A rare genetic movement disorder. The muscles contract involuntarily causing repetitive twisting and jerking movements. Type 15 is caused by a genetic defect on chromosome 18p11.
  • Dystonia 3, torsion, X-linked: A rare genetic movement disorder. The muscles contract involuntarily causing involuntary movements. Type 3 is caused by a genetic defect on chromosome Xq13.
  • Dystonia 4, Torsion, Autosomal Dominant: An inherited movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction. Usually speech is affected first.
  • Dystonia 6, torsion: A rare inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. Symptoms usually start in one limb and then spread to other limbs.
  • Dystonia 7, torsion: A rare dominantly inherited movement disorder. The muscles contract involuntarily causing involuntary twisting movements. Type 7 is caused by a genetic defect on chromosome 18p. The severity of the condition is variable and usually only one part of the body is affected such as the neck.
  • Dystonia Musculorum Deformans 1: A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
  • Dystonia musculorum deformans type 1: A rare movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. The trunk, neck and limbs are usually involved first.
  • Dystonia musculorum deformans type 2: A rare recessively inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. The hands and feet are usually involved first.
  • Dystonia musculorum deforms 4: A rare dominantly inherited movement disorder. The muscles contract involuntarily causing involuntary movements.
  • Dystonia with cerebellar atrophy: A recessively inherited movement disorder (dystonia) which responds poorly to Levodopa treatment and involves wasting of part of the brain.
  • Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency: A movement disorder resulting from an enzyme deficiency (sepiapterin reductase). A deficiency of this enzyme leads to low levels of serotonin and dopamine which manifests as neurological impairment in the form of motor and cognitive problems. The severity of symptoms is variable.
  • Dystonia-Parkinsonism, Adult-Onset: A rare condition characterized by the association of parkinsonism and dystonia due to a neurodegenerative disorder which progresses quickly.
  • Dystonias: Muscle problems causing movement disorders
  • Dystrophia myotonica 1: A rare genetic disorder characterized by myotonia, muscle atrophy, cataracts and hypogonadism.
  • Emery-Dreifuss Muscular Dystrophy:
  • Emery-Dreifuss Muscular Dystrophy 1: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart conduction defects. Type 1 is linked to a defect on chromosome Xq28. Because the condition is inherited in a X-linked manner, males tend to be affected but female carriers may have only the potentially fatal heart conduction disorder without any muscle symptoms.
  • Emery-Dreifuss Muscular Dystrophy 2: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart conduction defects. Type 2 is linked to a defect on chromosome 1q21.2. Because the condition is inherited in an autosomal dominant manner so males and females may be affected.
  • Emery-Dreifuss Muscular Dystrophy 3: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures. Type 3 is linked to a defect on chromosome 1q21.2. Because the condition is inherited in an autosomal recessive manner so males and females may be affected. Type 3 tends to not have any heart involvement.
  • Emery-Dreifuss Muscular Dystrophy 4: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart problems. Type 4 is linked to a defect on chromosome 6q25. Because the condition is inherited in an autosomal dominant manner so males and females may be affected.
  • Emery-Dreifuss Muscular Dystrophy 5: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart problems. Type 5 is linked to a defect on chromosome 14q23. Because the condition is inherited in an autosomal dominant manner so males and females may be affected.
  • Emery-Dreifuss Syndrome: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart conduction disorders. In cases with X-linked inheritance, female carriers may have only the potentially fatal heart conduction disorder without any muscle symptoms. The muscle wasting and weakness affects mainly the upper leg muscles.
  • Emery-Dreifuss muscular dystrophy, X-linked: A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms.
  • Emery-Dreifuss muscular dystrophy, dominant type: A rare disorder characterized by slowly-progressing weakness and wasting of skeletal and heart muscles. The dominant form of the disease is associated with greater variability of symptoms.
  • Epidermolysa bullosa simplex and limb girdle muscular dystrophy: A rare syndrome involving fragile skin that blisters easily as well as muscle weakness and wasting in the head and limbs. The severity of the blistering and muscle weakness is variable with some sufferers dying during infancy.
  • Epstein Barr virus related fibromyalgia: Epstein Barr virus related fibromyalgia refers to fibromyalgia that is associated with infection with the Epstein Barr virus. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues.
  • Erb's Palsy: Paralysis of the arm or hand often related to childbirth injury (also Brachial plexus palsy).
  • Erb's dystrophy: A slow progressing, muscle wasting disease. The muscles in the upper arms are affected first. Eventually muscles in the shoulders, trunk, thigh and pelvic girdle are involved. Eventually the facial muscles also become weak.
  • Extraocular motor nerve palsies: A palsy that affects the muscles which control eye movement
  • Extraocular muscle palsies: Restriction in the movement of the extraocular muscles.
  • FOSMN syndrome: A rare neurodegenerative disorder that starts in the face and spreads to the scalp and upper body. The condition progresses slowly.
  • Facial paresis, hereditary, congenital: A rare inherited birth disorder characterized by the dysfunction of a facial nerve (VIIth cranial nerve). The facial weakness may occur on one or both sides of the face.
  • Facioscapulohumeral Muscular Dystrophy -- Sensorineural Hearing Loss: A rare condition characterized by hearing impairment and muscle wasting in the facial and shoulder muscles. The rate of progression and severity of the condition is quite variable.
  • Facioscapulohumeral muscular dystrophy 1a: An inherited muscle disease involving slowly progressive muscle weakness. The condition is characterized by the early involvement of facial and shoulder muscles. Muscle weakness then spreads to the pelvis and legs. The onset, severity and rate of progression is variable.
  • Fasciculations: A condition which is characterized by involuntary muscular contractions visible under the skin.
  • Fazio-Londe syndrome: A rare inherited motor neuron disease characterized by progressive muscle weakness which ultimately leads to premature death.
  • Fibromyalgia: A difficult to diagnose condition affecting the muscles and/or joints
  • Fitzsimmons-Walson-Mellor syndrome: A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness.
  • Focal dystonia: A neurological condition that affects a localized muscle group causing the muscle to contract and twist. For example, foot dystonia can cause the muscles to contract and the toes to curl inwards. The disorder can occur in the limbs, larynx, jaw, neck trunk and other body parts.
  • Friedreich ataxia: A progressive inherited neuromuscular disorder involving slow degeneration of the spinal cord and brain.
  • Friedreich ataxia -- congenital glaucoma: A rare disorder characterized by glaucoma at birth and a progressive neuromuscular disorder.
  • Friedreich's ataxia: Progressive muscle weakness from nerve damage.
  • Fronto-temporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17): A rare neurodegenerative disorder caused by a genetic anomaly and characterized by dementia and parkinsonism.
  • Fukuyama type muscular dystrophy: A rare inherited muscle wasting disease occurring predominantly in Japan and characterized by mental retardation and muscle weakness from infancy.
  • Generalized Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease resulting from autoimmune dysfunction. In generalized myasthenia gravis weakness develops mainly in the limbs and trunk. The severity of symptoms may vary amongst patients. Most patients suffer increased severity of symptoms during the day with improvement after sleeping.
  • Genetic Parkinson disease: A type of Parkinson disease that results from a genetic anomaly. There are a more than ten different genes that can cause Parkinson disease.
  • Giant axonal neuropathy: A rare genetic disorder characterized by incoordination, vision problems and dementia caused by abnormalities of a nerve cell component.
  • Glycogen storage disease type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down.
  • Guillain-Barre Syndrome: A rare progressive form of ascending polyneuropathy believed to be an autoimmune response.
  • Gullian-Barre-like hyporeflexia: Hyporeflexia is characterised by below normal or absent reflexes.It is generally associated with a lower motor neuron deficit.
  • Hereditary Congenital Facial Paresis: Hereditary Congenital Facial Paresis is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. There are two subtypes which differ in the origin of the genetic defect: type I is caused by a defect on chromosome 3q and type II is linked to a genetic defect on chromosome 10q. The facial paralysis may affect one or both sides of the face.
  • Hereditary Congenital Facial Paresis 2: Hereditary Congenital Facial Paresis II is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. It is linked to a genetic defect on chromosome 10q. The facial paralysis may affect one or both sides of the face.
  • Hereditary Congenital Facial Paresis I: Hereditary Congenital Facial Paresis I is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. It is linked to a genetic defect on chromosome 3q. The facial paralysis may affect one or both sides of the face.
  • Hereditary Congenital Facial Paresis II: Hereditary Congenital Facial Paresis II is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. It is linked to a genetic defect on chromosome 10q. The facial paralysis may affect one or both sides of the face.
  • Hereditary Spastic Paraplegia: A slow-progressing degeneration of the tract that connects the brain to the spinal cord (corticospinal tract) resulting in muscle spasticity, weakness and paralysis. The severity of symptoms is determined by the nature and extent of the damage.
  • Hereditary carnitine deficiency: An inherited deficiency of carnitine resulting primarily in muscle problems. Severe symptoms can be triggered by periods of illness or fasting.
  • Hereditary carnitine deficiency myopathy: An inherited deficiency of carnitine resulting primarily in muscle weakness.
  • Hereditary carnitine deficiency syndrome: An inherited deficiency of carnitine resulting primarily in muscle weakness. The carnitine deficiency may be due to excessive loss of insufficient production.
  • Hereditary carnitine deficiency syndrome, myopathic: An inherited deficiency of carnitine in muscles resulting primarily in muscle weakness - generally less severe than the systemic form.
  • Hereditary carnitine deficiency syndrome, systemic: An inherited deficiency of carnitine in tissues other than the muscles resulting primarily in muscle weakness.
  • Hereditary inclusion body myopathy -- joint contractures -- ophthalmoplegia: A very rare, dominantly inherited genetic disorder involving progressive muscle weakness and wasting, joint contractures at birth and ophthalmoplegia. Muscle function problems usually don't start until the 4th or 5th decade of life.
  • Hereditary spastic paralysis, infantile onset ascending: A rare inherited progressive condition where the muscles of the arms, legs and face become increasingly weak and stiff due to damage to nerve cells that control muscle movement. The legs are affected first and then the arms and face - the symptoms ascend up the body. This condition involves mutations in the same gene and overlapping symptoms with juvenile primary lateral sclerosis but the difference is that primary lateral sclerosis only involves degeneration of the upper motor neurons whereas infantile-onset spastic paralysis is more severe and involves degeneration of upper and lower motor neurons.
  • Hyperreflexia: An exaggerated reflex of the muscles
  • Hyperreflexia in children: Hyperreflexia in children is a condition on which there are over active reflexes in a child.
  • Hypertrophic neuropathy of Dejerine-Sottas: An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in numbness, muscle weakness and loss of function. The severity of the condition is variable.
  • Hypoactive deep tendon reflexes: delayed tendon reflexes
  • Hypotonia, Seizures and Precocious Puberty: A rare syndrome observed in three siblings and characterized mainly by seizures and reduced muscle tone. Early puberty was also observed in two of the children.
  • Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response: A very rare syndrome characterized by reduced muscle tone and nystagmus in infants and ataxia. The electrical signals in nerves that send messages from the ears to the brain were abnormal but usually there were no hearing problems
  • Hypotonia-cystinuria syndrome: A genetic disorder characterized by reduced muscle tone, growth hormone deficiency and unusual facial appearance. Failure to thrive occurs during the first years of life but is replaced by rapid weight gain in later childhood. This syndrome is a milder form of the 2p21 deletion syndrome.
  • Hypotonic sclerotic muscular dystrophy: A very rare inherited disorder involving abnormalities of various body systems. It is a variation of Ullrich's disease. The contractures that develop progress rapidly.
  • Idiopathic Parkinson's disease: Idiopathic Parkinson's disease is Parkinson's disease for which no particular cause can be determined - it is the most prevalent form of the condition. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Idiopathic dystonia DYT1: A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
  • Idiopathic facial palsy: Weakness or paralysis of the facial muscles that occurs for no apparent reason. The condition is usually temporary and tends to resolve itself with the majority recovering fully within three weeks and the rest within a year. Usually only one side of the face is affected.
  • Infantile axonal neuropathy: A very rare form of progressive nerve damage that starts early in life. The central nervous system is also usually involved.
  • Infantile onset spinocerebellar ataxia: A rare disorder that has neurological origins and causes progressive ataxia, impaired tendon reflexes, abnormal limb movements, and sensory, eye muscle and hearing impairment.
  • Infantile parkinsonism: A rare disorder of amino acid metabolism characterized by a defect in the enzyme tyrosine hydroxylase. The enzyme is needed to convert phenylalanine to dopamine.
  • Isaacs syndrome: A rare disorder where muscles suffer from stiffness and cramping, particularly limb muscles.
  • Juvenile Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease which results from autoimmune dysfunction. Juvenile myasthenia gravis also has autoimmune origins and tends to develop during childhood. Symptoms tend to become worse during the day with activity and improve after rest or after sleeping. The severity of symptoms may vary.
  • Juvenile primary lateral sclerosis: A very rare genetic disorder characterized by increasing weakness and stiffness of the muscles in the arms, legs and face due to damage to nerve cells that control motor movement.
  • Juvenile-onset dystonia: A rare form of progressive dystonia that starts early in life - first or second decade. Dystonia is prolonged involuntary muscle spasms or contractions. Various other physical abnormalities are also present and severe hearing loss usually occurs by the middle of the first decade. In the two reported cases, death occurred early in the third decade.
  • Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
  • Kennedy Syndrome: A rare eye disorder involving the association of optic atrophy (loss of optic nerves) and scotoma (blind spot in vision) in one eye and papilledema (swelling of the optic disc) in the other. It is often associated with a tumor in the optic nerve or frontal lobe of the brain. Various other symptoms may also be associated with the condition depending on the cause.
  • King-Denborough syndrome: A rare birth disorder characterized by musculoskeletal abnormalities and nerve muscle problems.
  • Kuf Disease:
  • Lactate dehydrogenase deficiency: An inherited genetic muscle disease where an enzyme deficiency (lactate dehydrogenase) affects the normal processes that convert carbohydrates from food into energy which affects muscles. Lactate dehydrogenase facilitates the conversion of lactate to pyruvate and vice versa.
  • Lactate dehydrogenase deficiency type A: A rare genetic disorder where an enzyme deficiency (Lactate dehydrogenase type A) affects the conversion of carbohydrates to energy.
  • Lactate dehydrogenase deficiency type B: A rare genetic disorder where an enzyme deficiency (Lactate dehydrogenase type B) affects the conversion of carbohydrates to energy. The condition is generally asymptomatic.
  • Lactate dehydrogenase deficiency type C: A rare genetic disorder where an enzyme deficiency (Lactate dehydrogenase type C) affects the conversion of carbohydrates to energy. The type C enzyme is specific to sperm and the condition is generally asymptomatic.
  • Landouzy-Dejerine muscular dystrophy: A rare inherited neuromuscular disorder characterized mainly by progressive weakness and wasting of facial and shoulder and upper arm muscles. A rare form of the condition is noticeable at infancy and progresses rapidly.
  • Limb dystonia: A nerve disorder which affects muscles. It causes prolonged muscle spasms (contractions) which results in repeated twisting motions or abnormal limb postures.
  • Limb-Girdle muscular dystrophy type 2A: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the Calpain-3 gene.
  • Limb-girdle Muscular Dystrophy: A condition which is characterized by a slowly progressive muscular dystrophy
  • Limb-girdle Muscular Dystropy type 1B:
  • Limb-girdle muscular dystrophy type 1A: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the myotilin gene.
  • Limb-girdle muscular dystrophy type 1B: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the Lamin A/C gene.
  • Limb-girdle muscular dystrophy type 1C: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the Caveolin-3 gene.
  • Limb-girdle muscular dystrophy type 1D: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of chromosome 6. Males are more severely affected than females in this form of the disease.
  • Limb-girdle muscular dystrophy type 1E: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of chromosome 7. The heart is also affected in this condition.
  • Limb-girdle muscular dystrophy type 2B: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by deficiency of the dysferlin protein. There is variation in the degree of muscle involvement and the rate of progression
  • Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the gamma-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
  • Limb-girdle muscular dystrophy type 2D: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the alpha-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
  • Limb-girdle muscular dystrophy type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
  • Limb-girdle muscular dystrophy type 2F: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the delta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
  • Limb-girdle muscular dystrophy type 2G: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the telethonin protein.
  • Limb-girdle muscular dystrophy type 2H: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the TRIM32 protein.
  • Limb-girdle muscular dystrophy type 2I: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the FKRP (fukutin-related protein) gene.
  • Locked-in Syndrome: A rare neuromuscular disorder involving total paralysis of voluntary muscles except for the eye muscles.
  • Lower motor neuron weakness: Muscle weakness caused by neurological problems.
  • Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
  • Macrocephaly -- short stature -- paraplegia: A rare syndrome characterized by a large head, short stature and spastic paraplegia.
  • Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations: A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems.
  • Macrogyria, pseudobulbar palsy and mental retardation: A very rare syndrome characterized mainly by abnormal brain development which results in mild mental retardation, epilepsy, developmental delay and pseudobulbar palsy which affects speech, chewing and swallowing functions.
  • Macrostomia -- preauricular tags -- external ophthalmoplegia: A rare syndrome characterized mainly by a large mouth, skin tags in front of the ears and weak external eye muscles.
  • Major depressive disorder related fibromyalgia: Major depressive disorder related fibromyalgia refers to fibromyalgia that is associated with major depression. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues.
  • Mc Leod neuroacanthocytosis syndrome: A rare syndrome characterized by neuromuscular, blood and central nervous system symptoms. The disease is slowly progressive.
  • Meige syndrome: A neurological movement disorder involving symptoms such as involuntary facial movements and eye muscle spasms.
  • Mental retardation -- hypotonia -- skin hyperpigmentation: A rare condition characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation.
  • Mental retardation -- skeletal dysplasia -- abducens palsy: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and weakness of an eye muscle.
  • Mental retardation, X-linked -- corpus callosum agenesis -- spastic quadriparesis: A rare disorder characterized by mental retardation, abnormal development of a part of the brain called the corpus callosum and spastic quadriparesis. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Mental retardation, X-linked -- dystonia -- dysarthria: A very rare X-linked disorder characterized by the association of mental retardation with dystonia (movement disorder) and dysarthria (speech disorder).
  • Mental retardation, X-linked -- hypotonia -- facial dysmorphism -- aggressive behavior: A rare X-linked disorder characterized by mental retardation, reduced muscle tone, aggressive behavior and unusual facial appearance. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Mental retardation, X-linked -- hypotonia -- recurrent Infections: A severe inherited form of X-linked mental retardation.
  • Microcephaly with spastic quadriplegia: A very rare disorder characterized by an abnormally small head and quadriplegia.
  • Minicore myopathy with external ophthalmoplegia: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The ophthalmoplegic form is distinguished by the presence of eye muscle weakness. The severity of symptoms is variable.
  • Mitochondrial Parkinson's disease: A form of Parkinson's disease that seems to be linked to mitochondrial defects - mitochondria are the energy-producing components of body cells. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Mixed Cerebral Palsy: Cerebral palsy is movement disorder originating from some sort of damage to the brain. There are a few different types of cerebral palsy (e.g. spastic, athetoid, ataxic) and a combination of two or more types is known as mixed cerebral palsy. The symptoms of mixed cerebral palsy usually involves spasticity and athetoid movements but other variations such as ataxia can occur.
  • Monomelic Amyotrophy: Rare motor neuron disease with good prognosis.
  • Motor neuron diseases: Any of various disorders of the "motor neurons", nerves that control movement.
  • Muscle Hypertonia: Abnormally increased muscle tone. The condition can be caused by overactive reflexes (spasticity), constant muscle contractions or upper motor neuron damage.
  • Muscle Hypotonia: Abnormally decreased muscle tone. The condition is associated with numerous syndromes.
  • Muscle phosphoglycerate kinase deficiency: An inherited genetic muscle disease where an enzyme deficiency (phosphoglycerate kinase) affects the normal processes that convert carbohydrates from food into energy.
  • Muscular Dystrophy: Any of various muscle wasting diseases
  • Muscular Dystrophy -- Late Onset: Muscle weakness and wasting that occurs later in life. The severity is variable with severe cases involving wheelchair confinement and death can occur if the heart muscle becomes involved. Progression may be slow or rapid. Slow progressing cases can result in a normal life span.
  • Muscular Dystrophy, Emery Dreifuss: A rare inherited muscle wasting disease which starts during childhood and progresses slowly. The muscle sin the upper arms and lower legs and lower legs tend to be affected first followed by those in the shoulders and hips. Joint contractures also develop during early childhood and tend to involve mainly the ankles, elbows and neck. There are three subtypes of the condition which vary in mode of inheritance.
  • Muscular Dystrophy, Limb-Girdle, Type 3: An inherited muscle disease affecting mainly the upper leg muscles. The upper arm muscles may or may not be affected. The extent and degree of muscle involvement is variable. The condition progresses slowly with independent mobility lost after a few decades of onset.
  • Muscular dystrophy -- congenital infantile cataract -- hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
  • Muscular dystrophy -- white matter spongiosis: A very rare syndrome characterized mainly by muscle problems, seizures and mental retardation.
  • Muscular dystrophy congenital, merosin negative: A rare group of diseases characterized mainly by reduced muscle tone and muscle weakness in the arms, legs and trunk. Symptoms start at birth or soon after.
  • Muscular dystrophy congenital, with integrin deficiency: A congenital muscle wasting disease resulting from genetic mutation resulting in the deficiency of a compound called integrin.
  • Muscular dystrophy limb girdle type 2A, Erb type: A slow progressing, muscle wasting disease. The muscles in the upper arms are affected first. Eventually muscles in the shoulders, trunk, thigh and pelvic girdle are involved.
  • Muscular dystrophy limb-girdle (generic term): A group of disorders characterized by muscle weakness and wasting involving mainly the voluntary muscles around the hips and shoulders i.e. the limb-girdle muscles. The terms proximal and distal may be used and this refers to muscles closest to the center of the body and furthest from the centre of the body respectively. The condition may start at any age and the rate of progression and severity of symptoms varies depending on the subtype. Generally, early onset forms tend to be more severe and progress faster than late onset forms.
  • Muscular dystrophy, Duchenne and Becker type: An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed in males but females can be carriers.
  • Muscular dystrophy, congenital, infantile with cataract -- hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
  • Muscular dystrophy, congenital, merosin-positive: A very rare group of diseases that involves early infantile onset of muscle weakness, loss of muscle tone and contractures.
  • Muscular dystrophy, congenital, type 1C: A recessively inherited muscle disease characterized by muscle weakness and wasting from infancy. Sufferers are generally unable to achieve the ability to walk unaided.
  • Muscular dystrophy, limb girdle: A rare inherited disorder characterized by weakness and wasting of hip and shoulder muscles which normally progresses slowly and may affect other nearby muscles.
  • Muscular dystrophy, limb girdle, autosomal recessive, type 2A: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the Calpain-3 gene.
  • Muscular dystrophy, limb-girdle -- mental retardation: A rare disorder where muscle weakness and wasting starts in the proximal muscles (upper limbs, shoulders and hips). The condition is caused by a deficiency of alpha-dystroglycan in the muscles.
  • Muscular dystrophy, limb-girdle type 2M: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by a defect in the fukutin gene on chromosome 9q31.
  • Muscular dystrophy, limb-girdle, autosomal dominant: A rare inherited condition characterized mainly by progressive wasting and weakness of muscles in the shoulder and pelvic girdle (around the top of the arms and legs). Heart and breathing complications may also occur in some cases.
  • Muscular dystrophy, limb-girdle, autosomal dominant, type 1F: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of chromosome 7q31.1. The muscle weakness starts in the muscles close to the trunk and spreads to the ends of the limbs. Early onset may result in wheelchair dependence by the 4th decade. The rate of progression is variable.
  • Muscular dystrophy, limb-girdle, autosomal dominant, type 1G: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of chromosome 4p21. The muscle weakness and wasting progresses slowly and starts in the muscles closest to the trunk.
  • Muscular dystrophy, limb-girdle, autosomal recessive, type 2B: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by deficiency of the dysferlin protein. There is variation in the degree of muscle involvement and the rate of progression.
  • Muscular dystrophy, limb-girdle, autosomal recessive, type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
  • Muscular dystrophy, limb-girdle, autosomal recessive, type 2H: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the TRIM32 protein.
  • Muscular dystrophy, limb-girdle, autosomal recessive, type 2K: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations in the gene for O-mannosyltransferase-1.
  • Muscular dystrophy, proximal, autosomal dominant, late onset type: An autosomal dominant form of limb-girdle muscular dystrophy characterized by muscle weakness and atrophy due to any of a number of gene mutations.
  • Muxcle Phosphoglycerate mutase deficiency:
  • Myasthenia Gravis: An autoimmune disorder which interferes with nerve impulses to muscles and hence results in weak, easily fatigued muscles.
  • Myasthenia Gravis with Thymus Hyperplasia: Myasthenia gravis is an autoimmune neuromuscular disease which is often associated with an abnormal thymus. The relationship between the thymus and myasthenia is not fully understood but as the thymus is involved in the body's immune system, it may trigger the immune system abnormality underlying some cases of myasthenia gravis.
  • Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors: A neuromuscular disease that is present from birth and is characterized by the inability to manage the condition by administering acetylcholinesterase inhibitors which is used to treat other myasthenias. This form of myasthenia results from a genetic defect whereas other forms of myasthenia generally result from an autoimmune process.
  • Myasthenia, Familial Infantile, 1: Illness, stress or fatigue may result in sudden severe episodes of apnea which can be fatal.
  • Myasthenia, Limb-Girdle, with Tubular Aggregates: A neuromuscular disease affecting the limb-girdle muscles primarily. The condition is distinguished by the presence of abnormal tubular aggregates in the muscle tissue and the absence of weakness in the eye and eyelid muscles which is a usually a symptom of myasthenia gravis.
  • Myasthenia, familial: A familial form of myasthenia which is a muscle disease characterized by muscle weakness. The weakness is exacerbated by physical activity and improved by resting.
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency: A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms.
  • Myoclonic dystonia: A very rare inherited syndrome characterized mainly by mild dystonia and myoclonic jerks that occur mainly in the arms, neck and trunk. Alcohol makes the condition worse. Psychiatric disorders are also often present.
  • Myopathy -- ophthalmoplegia -- hypoacousia -- areflexia: A rare disorder characterized mainly by muscle weakness, paralysis of eye muscles, lack of reflexes and partial hearing loss.
  • Myopathy congenital multicore with external ophthalmoplegia: A rare disorder characterized by muscle weakness and as well as weakness or paralysis of the external eye muscles. Severity of symptoms are variable.
  • Myopathy, limb-girdle, with bone fragility: A rare inherited disorder characterized by easy bone fracturing, poor healing of fractures and progressive weakness of the limb-girdle muscles. The fractures tend to occur before the muscle problems. The slow-healing fractures sometimes resulted in osteomyelitis and limb amputation.
  • Myotonic Dystrophy: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2.
  • Myotonic dystrophy type 3: A rare genetic disorder characterized by myotonia, muscle atrophy, cataracts and hypogonadism.
  • Myotonic dystrophy, type 2: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2. Type 2 also tends to affect muscle closer to the trunk e.g. upper leg and shoulders.
  • Nemalin myopathy, late onset type: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemalin rods in the muscle tissue which affects its function. The muscle weakness may be severe but is generally not a progressive condition. The main muscles affected are the limbs, neck and face. The legs are generally more affected in the late onset type.
  • Nemaline myopathy: A congenital skeletal muscle disease where muscle weakness is caused by the presence of thread-like rods in the muscle cells.
  • Nemaline myopathy 1: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 1 is caused by a defect on the tropomyosin 3 gene on chromosome 1q22.
  • Nemaline myopathy 2: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 2 is caused by a defect on the nebulin gene on chromosome 2q22.
  • Nemaline myopathy 3: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 3 is caused by a defect on the alpha-actin gene.
  • Nemaline myopathy 4: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 4 is caused by a defect on the tropomyosin 2 gene on chromosome 9p13.
  • Nemaline myopathy 5: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 5 is caused by a defect on the Troponin T1 gene on chromosome 19q13.4.
  • Nemaline myopathy 6: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 6 is caused by a defect on chromosome 15q. Type 4 was slowly progressive but wheelchair dependency does not eventuate.
  • Nemaline myopathy 7: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 7 is caused by a defect on the cofilin-2 gene.
  • Nemaline myopathy, early onset type: A rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemalin rods in the muscle tissue which affects its function. The muscle weakness may be severe but is generally not a progressive condition. The main muscles affected are the limbs, neck and face
  • Neonatal myasthenia: Complication in babies of mothers with myasthenia gravis.
  • Nephronophthisis familial, adult -- spastic quadriparesis: A very rare syndrome characterized mainly by progressive kidney destruction and spasticity and weakness of arms and legs.
  • Neuritis with brachial predilection: A neuromuscular disorder that tends to only affect the arm and hand. It causes muscle pain, weakness and wasting. Physical and emotional stress and pregnancy may trigger episodes. In rare cases the legs may be involved.
  • Neurological symptoms: Any symptoms that are caused by neurological conditions
  • Neuromyotonia: A condition which is characterized by myotonia caused by electrical activity of the peripheral nerve
  • Neuronal intranuclear inclusion disease: A very rare syndrome characterized mainly by muscle and nerve degeneration.
  • Neuronopathy, distal hereditary motor, type IIB: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any sensory impairment. Type IIB is caused by a defect on the HSPB1 gene on chromosome 7q11.23.
  • Neuronopathy, distal hereditary motor, type IV: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any sensory impairment. HMN III and HMN IV are forms of autosomal recessive distal neuronopathy type 3 - the only difference is that HMN III is a slightly milder version.
  • Neuronopathy, distal, autosomal recessive, 3: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any sensory impairment. HMN III and HMN IV are forms of autosomal recessive distal neuronopathy type 3 - the only difference is that HMN III is a slightly milder version.
  • Neuropathy sensory spastic paraplegia: A very rare syndrome characterized mainly by sensory nerve degeneration and spastic paraplegia. The extremities of the hands and feet have reduced pain sensation and disfiguring ulcers tend to develop.
  • Neuropathy, distal hereditary motor: An inherited group of neuromuscular disorders that affects the nerve cells in the spinal cord and causes weakness and wasting of the muscles in the hands and feet. The condition is generally progressive but the rate is variable. The muscles only are affected and there is no sensory impairment.
  • Neuropathy, distal hereditary motor, Jerash type: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any sensory impairment.
  • Neuropathy, distal hereditary motor, type III: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any sensory impairment. HMN III and HMN IV are forms of autosomal recessive distal neuronopathy type 3 - the only difference is that HMN III is a slightly milder version.
  • Neuropathy, distal hereditary motor, type VIIA: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs and vocal cord paralysis. There is no sensory impairment.
  • Neuropathy, hereditary motor and sensory, LOM type: A severe form of Charcot-Marie-Tooth disease which involves the loss of the protective covering around nerves resulting in various nerve problems. Muscle weakness and wasting and sensory loss is more severe in the ends of the arms and legs.
  • Neuropathy, hereditary motor and sensory, Okinawa type: A dominantly inherited, slow-progressing motor and sensory nerve disease which primarily involves the proximal muscles (i.e. the muscles closest to the trunk of the body).
  • Neurosyphilis -- general paresis: A complication of untreated syphilis where the infection invades the brain cells and causes a range of neurological symptoms. The condition is progressive and life-threatening.
  • Ocular Muscular Dystrophy: A slow progressing paralysis of the muscles surrounding the eyes. Eventually the eyes are unable to move.
  • Ocular Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease resulting from autoimmune dysfunction. In ocular myasthenia gravis, only the eye muscles are affected. A significant number of patients with ocular myasthenia gravis go on to develop symptoms in other muscles.
  • Oculomotor palsy: Oculomotor nerve palsy is an eye condition resulting from damage to the third cranial nerve or a branch thereof.
  • Oculopharyngeal Muscular Dystrophy: A group of genetic muscle-wasting diseases which affects mainly the eyes and throat. Weakness in limb and facial muscles can occur in later stages.
  • Ophtalmoplegia -- ataxia -- hypoacusis: A rare syndrome characterized by ophthalmoplegia, ataxia and reduced sensitivity to sound.
  • Ophtalmoplegia myalgia tubular aggregates: A very rare muscle disorder where accumulation of tubular bodies in muscle tissue causes progressive eye muscle weakness and muscle pain triggered by exercise.
  • Ophthalmoplegia: A disorder that is characterised by the paralysis of the eye muscles
  • Ophthalmoplegia, progressive external -- scoliosis: A very rare syndrome characterized mainly by progressive eye muscle weakness and scoliosis.
  • Ophthalmoplegic Muscular dystrophy: A rare disorder characterized by progressive weakness and wasting of the muscles around the eyes. Swallowing muscles may eventually become involved as well.
  • Opisthotonos: A condition which is characterized by tetanic spasm of the muscles of the spine resulting in hyperextension of the body at the spine
  • Oppenheim's dystonia: A rare movement disorder where the patients suffer uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
  • Opthalmoplegia -- mental retardation -- lingua scrotalis: A very rare syndrome characterized mainly by weak or paralyzed eye muscles, mental retardation and a fissured tongue.
  • Opthalmoplegia -- myalgia -- tubular aggregates: A very rare muscle disorder where accumulation of tubular bodies in muscle tissue causes progressive eye muscle weakness and muscle pain triggered by exercise.
  • Opthalmoplegia ataxia hypoacusis: A rare disorder characterized by the association of ataxia, impaired hearing and eye movement problems.
  • Opthalmoplegia progressive external scoliosis: A rare disorder characterized by progressive weakening of external eye muscles and scoliosis.
  • Opththalmoplegia: Eyeball movement paralysis or weakness
  • Optic atrophy -- ophthalmoplegia -- ptosis -- deafness -- myopathy: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
  • Optic atrophy opthalmoplegia ptosis deafness myopia: A rare syndrome characterized by the association of optic atrophy, ophthalmoplegia, droopy eyelids, deafness and myopia.
  • Paralysis: The loss of motor function due to dysfunction of the spinal cord
  • Paramyotonia congenita: A rare inherited muscle condition where muscles are difficult to relax following contraction. The main muscles affected are in the face, neck, arms and hands. Repetition of movements makes the muscle stiffness become progressively worse. The condition is not progressive and exposure to cold can trigger symptoms.
  • Paraplegia: Paralysis of legs and sometimes lower body
  • Paraplegia -- brachydactyly -- cone-shaped epiphysis: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
  • Paresis: A medical term for partial paralysis, impaired movement or partial loss of movement. The term is usually used in reference to the limbs but can be used to refer to the eye and stomach or to simply mean weakness.
  • Parkinson disease 10: A slow progressing form of Parkinson's disease caused by a mutation on chromosome 1p.
  • Parkinson disease 10 (PARK10): Type 10 Parkinson disease is linked to a genetic mutation on chromosome 1p32. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 11: A form of Parkinson's disease caused by a mutation on chromosome 2q36-q37.
  • Parkinson disease 11 (PARK11): Type 11 Parkinson disease is linked to a genetic mutation on chromosome 2q21.2. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 12: A X-linked form of Parkinson's disease caused by a mutation on chromosome Xq21-q25.
  • Parkinson disease 12 (PARK12): Type 12 Parkinson disease is linked to a genetic mutation on chromosome Xq21-q25. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 13: A form of Parkinson's disease caused by a mutation in the serine protease gene on chromosome 2p12.
  • Parkinson disease 13 (PARK13): Type 13 Parkinson disease is linked to a genetic mutation on chromosome 2p12. This form of the condition tends to progress slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 2, autosomal recessive juvenile (PARK2): Type 2 Parkinson disease is juvenile form of the condition and is linked to a genetic mutation on chromosome 6q25.2-q27. The condition may be inherited in a recessive manner and symptoms tend to be milder following sleep. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 3: A genetic form of Parkinson disease which involves progressive degeneration of the central nervous system.
  • Parkinson disease 3, autosomal dominant Lewy body (PARK3): Type 3 Parkinson disease is linked to a genetic mutation on chromosome 2p13. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 4, autosomal dominant Lewy body (PARK4): Type 4 Parkinson disease is linked to a genetic mutation on chromosome 4q21. This form of the condition tends to start around the age of 45 years and progresses rapidly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 4, autosomal dominant, Lewy body: A form of Parkinson's disease caused by a triplication of the alpha-synuclein gene on chromosome 4q21.
  • Parkinson disease 5 (PARK5): Type 5 Parkinson disease is linked to a genetic mutation on chromosome 4p14. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 6, autosomal recessive early-onset (PARK6): Type 6 Parkinson disease is an early-onset form of the condition and is linked to a genetic mutation on the PINK1 gene on chromosome 1p36. The condition may be inherited in a recessive manner and symptoms tend to fluctuate during the day. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 6, autosomal recessive, recessive early-onset: A slow progressing form of Parkinson's disease caused by a mutation in the PINK1 gene on chromosome 1p36.
  • Parkinson disease 7, autosomal recessive early-onset (PARK7): Type 7 Parkinson disease is linked to a genetic mutation in the DJ1 gene on chromosome 1p36. This form of the condition tends to start before the age of 40 years and progresses slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 7, autosomal recessive, early-onset: A recessively inherited form of Parkinson's disease caused by a mutation in the DJ1 gene on chromosome 1p36. Disease progression tends to be slow.
  • Parkinson disease 8: A form of Parkinson's disease caused by a mutation in the dardarin gene on chromosome 12q12.
  • Parkinson disease 8 (PARK8): Type 8 Parkinson disease is linked to a genetic mutation on chromosome 1p32. This form of the condition tends to progress slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 9: A genetic form of Parkinson disease (a progressive degeneration of the central nervous system) that progresses rapidly once it starts. Dementia, spasticity and eye movement problems are also characteristic of this form of Parkinson disease.
  • Parkinson disease 9 (PARK9): Type 9 Parkinson disease is linked to a mutation in the ATP13A2 gene on chromosome 1p36. This condition progresses rapidly and usually starts during the second decade of life. Dementia, eye movement problems and wasting of the brain tissue occur in addition to the typical symptoms of Parkinson's disease. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease, familial, Type 1: A form of Parkinson's disease involving a mutation in the alpha-synuclein gene on chromosome 4q21.
  • Parkinson disease, familial, type 1 (PARK1): Type 1 familial Parkinson disease is linked to a genetic mutation on chromosome 4q21. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease, genetic types: A type of Parkinson disease that results from a genetic anomaly. There are a more than ten different genes that can cause Parkinson disease.
  • Parkinson disease, juvenile, autosomal recessive: A rare form of Parkinson disease that tends to occur by the age of 40 and is inherited in a recessive manner. Symptoms tend to be more severe during the day rather than the night.
  • Parkinson's Disease: Degenerative brain condition characterised by tremor.
  • Parkinson's disease dementia, familial: A condition characterized by the association of parkinsonism with dementia. Eye muscle weakness and pyramidal signs also develop in the early stage of the disease.
  • Parkinsonism, early onset with mental retardation: An early onset form of Parkinson's disease as well as mental retardation.
  • Parkinsonism, early-onset -- mental retardation: An early onset form of Parkinson's disease as well as mental retardation.
  • Parsonage Turner syndrome: Inflammation of the nerves that carry signals from the spine to the shoulder, arm and hands.
  • Perisylvian syndrome: A very rare nerve disorder characterized by weakness or paralysis of face, jaw tongue and throat muscles. Other symptoms include seizures, delayed development and mental retardation.
  • Phosphoglycerate Kinase Deficiency: A condition which is characterized by a deficiency in the enzyme phosphoglycerate kinase
  • Phosphoglycerate kinase 1 deficiency: An inherited genetic muscle disease where an enzyme deficiency (phosphoglycerate kinase) affects the normal processes that convert carbohydrates from food into energy.
  • Polyneuropathy -- Ophthalmoplegia -- Leukoencehalopathy -- Intestinal Pseudo-Obstruction: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
  • Polyradiculoneuropathy: An inflammatory disorder that affects the peripheral nerves and the spinal nerve roots. The onset and progression of the disease is variable with severe cases resulting in premature death. The condition is chronic and progressive but periodic relapses can occur.
  • Pontocerebellar hypoplasia with infantile spinal muscular atrophy: A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The disorder is lethal with death usually occurring within the first year. The brain progressively degenerates.
  • Powell-Venencie-Gordon syndrome: A very rare syndrome characterized mainly by thickened skin on the palms and soles as well as spastic paralysis.
  • Primary Fibromyalgia: Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Primary fibromyalgia is a term given to fibromyalgia that occurs for no apparent reason whereas secondary fibromyalgia has an identifiable cause. The primary form is more common than the secondary form.
  • Primary Lateral Sclerosis: A neurological disorder involving the upper motor nerves and causing progressive muscle weakness in the extremities and facial area. This condition involves mutations in the same gene and overlapping symptoms with juvenile primary lateral sclerosis but the difference is that primary lateral sclerosis only involves degeneration of the upper motor neurons whereas infantile-onset spastic paralysis is more severe and involves degeneration of upper and lower motor neurons.
  • Primary Parkinsonism: A type of Parkinson disease that results from a genetic anomaly. There are a more than ten different genes that can cause Parkinson disease.
  • Primary dystonia: Dystonia is a neurological movement disorder where the muscle contract involuntarily and cause abnormal postures or repetitive, twisting movements. In primary dystonia the condition is the result of a genetic defect and there are no other symptoms other than the movement problems. The age of onset and severity of symptoms is variable with some cases being of a progressive nature which can lead to severe disability.
  • Primary lateral sclerosis, adult: A rare adult-onset genetic disorder characterized by increasing weakness and stiffness of the limb muscles due to damage to nerve cells that control motor movement.
  • Progressive External Opthhalmoplegia, Autosomal Dominant: A slow progressive paralysis of the motor nerves of the eye (external eye muscles). The condition is often abbreviated to PEO which can include the eye muscles. PEO is usually caused by mitochondrial diseases such as mitochondrial myopathy. Muscles are the most frequently affected organs in mitochondrial disease. There are a number of subtypes each originating from a different genetic mutations and involving variations in the manifestations.
  • Progressive External Opthhalmoplegia, Autosomal Dominant, 1: A slow progressive paralysis of the motor nerves of the eye (external eye muscles). The condition is often abbreviated to PEO and is caused by a mitochondrial disease called mitochondrial myopathy which affects the muscles which can include the eye muscles. There are a number of different subtypes, each linked to a different genetic defect. Type 1 is linked to a defect on chromosome 15q25.
  • Progressive External Opthhalmoplegia, Autosomal Dominant, 2: A slow progressive paralysis of the motor nerves of the eye (external eye muscles). The condition is often abbreviated to PEO and is caused by a mitochondrial disease called mitochondrial myopathy which affects the muscles which can include the eye muscles. There are a number of different subtypes, each linked to a different genetic defect. Type 2 is linked to a defect on chromosome 4q34.
  • Progressive External Opthhalmoplegia, Autosomal Dominant, 3: A slow progressive paralysis of the motor nerves of the eye (external eye muscles). The condition is often abbreviated to PEO and is caused by a mitochondrial disease called mitochondrial myopathy which affects the muscles which can include the eye muscles. There are a number of different subtypes, each linked to a different genetic defect. Type 3 is linked to a defect on chromosome 10q24.
  • Progressive External Opthhalmoplegia, Autosomal Dominant, 4: A slow progressive paralysis of the motor nerves of the eye (external eye muscles). The condition is often abbreviated to PEO and is caused by a mitochondrial disease called mitochondrial myopathy which affects the muscles which can include the eye muscles. There are a number of different subtypes, each linked to a different genetic defect. Type 4 is linked to a defect on chromosome 17q.
  • Progressive External Opthhalmoplegia, Autosomal Dominant, 5: A slow progressive paralysis of the motor nerves of the eye (external eye muscles). The condition is often abbreviated to PEO and is caused by a mitochondrial disease called mitochondrial myopathy which affects the muscles which can include the eye muscles. There are a number of different subtypes, each linked to a different genetic defect. Type 5 is linked to a defect on chromosome 8q23.
  • Progressive Spinobulbar muscular atrophy: Genetic disease affecting nerves and muscles
  • Progressive Supranuclear Palsy: A disorder characterized by reduced motor control, dementia and eye movement problems.
  • Progressive external ophthalmoplegia: A rare genetic disorder characterized by progressive paralysis of the eye muscles as well as occasional skeletal muscle involvement.
  • Progressive muscular atrophy: A condition which is characterized by painless, degenerative myopathies.
  • Progressive spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. The severity of symptoms and survival varies depending on the particular form of the condition. Death can occur as early as infancy whereas some forms allow survival into adulthood.
  • Progressive supranuclear palsy, atypical: A rare progressive neurodegenerative disorder which starts involves features of parkinsonism and dementia.
  • Proximal myotonic dystrophy: A very rare genetic muscle disorder which is often associated with cataracts, abnormal heart rhythm and infertility. Muscle weakness tends to occur more in muscles closer to the trunk such as the neck, shoulders, hips and upper legs. Pregnancy can exacerbate or initiate symptoms.
  • Proximal spinal muscular atrophy: A rare group of muscle disorders which mainly affects the muscles closest to the trunk of the body. Muscles become progressively weak and wasted due to damage to motor neurons in the spinal cord and brainstem.
  • Proximal spinal muscular atrophy, type 1: A type of spinal muscular atrophy which is a progressive genetic motor neuron disease involving the nerves and muscles. The condition is relatively rare and is characterized by muscle weakness which leads to structural deformities and loss or reduced capability of normal body movements. SMA type I is the most debilitating form as muscular weakness is evident at birth and diagnosis usually occurs within the first three months.
  • Proximal spinal muscular atrophy, type 3: A rare inherited disorder where motor neuron degeneration causes progressive muscle weakness and atrophy. The proximal muscles tend to be more affected than the distal ones and the legs tend to be more affected than the arms.
  • Proximal spinal muscular atrophy, type 4: A rare, progressive neuro-muscular disease that occurs in adults. Nerve cells in the spinal cord are impaired resulting in loss of voluntary muscle control in various parts of the body. The lack of use of the muscle results in atrophy or weakness. Progression and prognosis is difficult to determine as individuals are affected to varying degrees.
  • Proximal spinal muscular atrophy, type IV: A rare, progressive neuro-muscular disease that occurs in adults. Nerve cells in the spinal cord are impaired resulting in loss of voluntary muscle control in various parts of the body. The lack of use of the muscle results in atrophy or weakness. Progression and prognosis is difficult to determine as individuals are affected to varying degrees.
  • Quadriplegia: A condition where the patient becomes fully or partially paralysed from the neck down and is unable to move their arms or legs.
  • Radioulnar synostosis mental retardation hypotonia: A very rare syndrome involving mental retardation, reduced muscle tone and fusion of the forearm bones.
  • Ramsay Hunt Syndrome type I: A rare condition involving progressive neurological degeneration. It tends to start in adulthood and progresses over a number of years before ultimately ending in death.
  • Ramsay Hunt syndrome Type II: A condition caused by a reactivation of the herpes simplex virus and resulting in facial paralysis, ear pain and skin blistering.
  • Recurrent peripheral facial palsy: A very rare syndrome characterized mainly by recurring facial weakness. Episodes can occur several times a year.
  • Rheumatoid arthritis related fibromyalgia: Rheumatoid arthritis related fibromyalgia refers to fibromyalgia that is associated with rheumatoid arthritis. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Rheumatoid arthritis is a chronic inflammatory form of arthritis and is an autoimmune disease.
  • Roussy-Levy hereditary areflexic dystasia: An inherited ataxia (incoordination) involving muscle wasting, kyphoscoliosis and absence of tendon reflexes.
  • SLE related fibromyalgia: SLE related fibromyalgia refers to fibromyalgia that is associated with systemic lupus erythematosus. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. SLE is an autoimmune disease that can affect virtually any body system e.g. blood vessels and organs.
  • SPG: A group of neurodegenerative disorders involving progressive spasticity and increased reflexes in the legs. The rate of progression and severity is variable depending on the subtype involved.
  • Santavuori Disease:
  • Scapuloperoneal amyotrophy: An inherited disorder characterized by muscle wasting and weakness in the shoulder and lower leg.
  • Scapuloperoneal myopathy, MYH7-related: A dominantly inherited disorder involving muscle wasting and weakness that occurs mainly in the shoulder and lower leg muscles. It results from a defect in the MYH7 gene on chromosome 14q12.
  • Scapuloperoneal syndrome, neurogenic, Kaeser type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The legs are often affected first.
  • Scleroatonic muscular dystrophy: An inherited disorder affecting muscles and resulting in muscle weakness and wasting that starts from birth. The joints closest to the body tend to have limited movement whereas those in the hands and feet tend to be hyperextensible.
  • Secondary Fibromyalgia: Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Primary fibromyalgia is a term given to fibromyalgia that occurs for no apparent reason whereas secondary fibromyalgia has an identifiable cause. The primary form is more common than the secondary form.
  • Seemanova-Lesny syndrome: A rare disorder characterized by spasticity, seizures, absent abdominal reflexes, small head and mental retardation.
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria).
  • Sixth nerve palsy: A nerve disorder where the cranial nerve VI doesn't function properly and hence the eye can't look outwards towards the ears. The nerve impairment can result from ear infections, certain viral infections or other disorders.
  • Sixth nerve palsy, benign: A nerve disorder where the cranial nerve VI doesn't function properly and hence the eye can't look outwards towards the ears. The nerve impairment can result from ear infections, certain viral infections or other disorders.
  • Sleep disturbance related fibromyalgia: Sleep disturbance related fibromyalgia refers to fibromyalgia that is associated with sleep disturbance. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues.
  • Spastic Paraplegia 18, Autosomal Recessive: A rare genetic disorder characterized mainly by weakness and spasticity in the legs. Various other anomalies are also often present. Type 18 is linked to a defect on chromosome 8p12-p11.21.
  • Spastic Paraplegia 42, Autosomal Dominant: A rare disorder characterized mainly by muscle wasting and weakness in the legs.
  • Spastic diplegia, infantile type: A rare genetic disorder characterized by the early onset of lower leg spasticity and weakness and mental retardation.
  • Spastic dysarthria: A motor speech disorder where damage to the brain or spinal cord affects the muscles involved in speech. Causes include stroke, tumor and accidents.
  • Spastic paraparesis: A rare disorder where parts of the body develop spasticity and weakness. Usually the limbs are involved. The disorder is usually an inherited condition.
  • Spastic paraparesis deafness: A syndrome that is characterized with spastic paraparesis and deafness.
  • Spastic paraplegia -- neuropathy -- poikiloderma: A very rare syndrome characterized mainly by progressive stiffness and weakness of the legs, peripheral nerve degeneration and a skin disorder called poikiloderma. The eyelashes and eyebrows are usually gone by the age of three.
  • Spastic paraplegia 10, autosomal dominant: An extremely mild form of lower leg spasticity and weakness. Most sufferers are have symptoms so mild they go unnoticed.
  • Spastic paraplegia 11, autosomal recessive: A rare genetic disorder characterized by progressive spasticity and weakness of the lower legs as well as mental retardation.
  • Spastic paraplegia 12, autosomal dominant: A rare genetic disorder characterized mainly by rapidly progressive spasticity and weakness of the lower legs.
  • Spastic paraplegia 13, autosomal dominant: A rare genetic disorder characterized mainly by progressive spasticity and weakness of the lower legs.
  • Spastic paraplegia 14, autosomal recessive: A rare genetic disorder characterized mainly by lower leg spasticity and mild mental retardation.
  • Spastic paraplegia 15, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles as well as vision problems.
  • Spastic paraplegia 16, X-linked: A rare condition characterized by spasticity and weakness of the arms and legs, mental retardation, impaired vision and poor bowel and bladder control. In most cases, sufferers never gain the ability to walk.
  • Spastic paraplegia 17: A rare syndrome characterized by progressive weakness and wasting mainly in the hands and feet.
  • Spastic paraplegia 19, autosomal dominant: A rare genetic disorder characterized mainly by progressive spasticity and weakness of the lower legs. The condition is generally slow progressing with wheelchair confinement occurring only rarely.
  • Spastic paraplegia 2, X-linked: A very rare genetic disorder characterized by lower leg spasticity and weakness. It has an early onset, progresses slowly and eventually the brain becomes involved as well which produces sensory, speech and eye problems.
  • Spastic paraplegia 20, autosomal recessive: A rare disorder characterized mainly by progressive stiffness, weakness and wasting of the lower leg muscles. The thumb muscle and speech is also affected.
  • Spastic paraplegia 23: A rare disorder characterized mainly by progressive stiffness and weakness of the leg muscles, premature graying, characteristic facial appearance and a skin pigmentation anomaly. Pigmentation anomalies usually start from the age of 6 months and leg problems may be noticed around the middle of the first decade.
  • Spastic paraplegia 24: A rare genetic disorder characterized mainly by early onset of progressive weakness of the lower legs.
  • Spastic paraplegia 25, autosomal recessive: A rare genetic disorder characterized mainly by progressive weakness of the lower legs. The condition also involves herniation of spinal discs.
  • Spastic paraplegia 26, autosomal recessive: A rare genetic disorder characterized mainly by progressive weakness of the lower legs. The condition also involves herniation of spinal discs.
  • Spastic paraplegia 29, autosomal dominant: A rare genetic disorder characterized mainly by progressive spasticity and weakness of the lower legs. The arms may also be affected in some cases.
  • Spastic paraplegia 3, autosomal dominant: A an early onset, very slow progressing form of spastic paraplegia which involves lower leg spasticity and weakness.
  • Spastic paraplegia 30, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
  • Spastic paraplegia 31, autosomal dominant: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
  • Spastic paraplegia 32, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
  • Spastic paraplegia 33, autosomal dominant: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
  • Spastic paraplegia 39, autosomal recessive: A recessively inherited neurological disorder which causes progressive spastic paraplegia and wasting of the hand and foot muscles. Type 39 is linked to a defect in the NTE gene.
  • Spastic paraplegia 4, autosomal dominant: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles. The severity of the condition is very variable as is the age of onset.
  • Spastic paraplegia 6, autosomal dominant: A rare genetic disorder characterized by progressive leg spasticity and weakness.
  • Spastic paraplegia 7, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
  • Spastic paraplegia 8, autosomal dominant: A rare form of muscle spasticity and weakness that affects mainly the lower legs.
  • Spastic paraplegia 9, autosomal dominant: A rare disorder characterized by muscle wasting and weakness mainly in the legs, short stature, skeletal abnormalities and cataracts.

 

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