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Diseases » Muscle conditions » Glossary
 

Glossary for Muscle conditions

  • 3-methylglutaconic aciduria, type 1: A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine.
  • 3-methylglutaconic aciduria, type V: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid.
  • Abdominal muscle strain: Damage to the abdominal muscle due to over-stretching of the muscle tissue. The damage involves tearing the muscle tissue. Small blood vessels may also be damaged which can cause bruising. The symptoms may vary from mild to severe depending on the severity of the damage.
  • Absence of gluteal muscle: The absence of the buttock (gluteal) muscles at birth. Spina bifida occulta (absence of back part of some vertebrae) was also present.
  • Acanthosis nigricans muscle cramps acral enlargement: A rare syndrome characterized mainly by muscle cramps, dark velvety patches of skin and large hands and feet.
  • Accessory muscle use: The use of the accessory muscles of respiration to maximize ones breathing
  • Achalasia: A rare motor disorder of the esophagus characterized by inability of the lower esophageal sphincter and esophageal muscle to relax as well as dilation of the esophagus.
  • Achalasia -- Addisonianism -- Alacrimia syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Achalasia -- addisonianism -- alacrima syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Achalasia -- alacrimia syndrome: A rare disorder characterized by the association of achalasia (lack of peristaltic motion) and alacrimia (absent tears).
  • Achalasia microcephaly: A very rare syndrome characterized primarily by a small head and achalasia which involves esophageal problems such as enlargement.
  • Achalasia, familial esophageal: A rare familial disorder where the esophagus lacks the normal peristaltic motions that help food move through the digestive system.
  • Achalasia, primary: A rare motor disorder of the esophagus characterized by inability of the lower esophageal sphincter and esophageal muscle to relax as well as dilation of the esophagus. The disorder is not associated with any other disease or disorder.
  • Achilles tendon contracture: A condition which is characterized by permanent contracture of the Achilles tendon of the leg
  • Achondroplasia regional -- dysplasia abdominal muscle: A rare syndrome characterized mainly by abnormal bone development of the ilium, ribs and abdominal muscles. The abdominal muscles tend to become more develope with increasing age.
  • Aconitase deficiency: A rare disorder where deficiency of an enzyme called aconitase results in muscle disease and intolerance to exercise.
  • Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
  • Adrenomyeloneuropathy: A form of X-linked adrenoleukodystrophy characterized by spinal cord dysfunction and brain involvement may or may not be present. Those with brain involvement suffer serious symptoms that can eventually lead to total disability and even death.
  • Adrenomyodystrophy: A rare genetic disorder characterized by primary adrenal insufficiency, dystrophic myopathy, severe psychomotor retardation and an overly-distended bladder which can cause death.
  • 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.
  • Alcoholic, reversible acute muscular: Muscle cramps associated with chronic alcohol abuse.
  • Aldolase A deficiency: A rare condition where a deficiency of the enzyme called aldolase A causes muscle problems and anemia.
  • All Disease Categories: All major disease categories
  • Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
  • Allen-Masters syndrome: Damage to muscle layers in the pelvis which allows the abnormally increased movement of the cervix. It often occurs after a traumatic surgical birth, induced abortion or excessive vaginal packing.
  • Alopecia-contractures-dwarfism-mental retardation: A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures.
  • Alpha-sarcoglycanopathy: A rare genetic disorder involving progressive muscle weakness of the pelvic and shoulder muscles.
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • 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.
  • Amyloidosis: A rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. Symptoms depend on the organs involved. There are numerous forms of the condition: primary amyloidosis, secondary amyloidosis, hemodialysis-associated amyloidosis and familial amyloidosis.
  • Amyopathic dermatomyositis: A rare disorder involving a skin rash that normally occurs with inflammation of skeletal muscles (dermatomyositis) but there is no muscle involvement. It is important to monitor patients in case muscle involvement develops.
  • Amyoplasia: A rare condition characterized by congenital joint stiffness.
  • Amyotonia congenita: A term used to describe conditions involving poor muscle tone that occurs from birth.
  • 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.
  • Anal sphincter myopathy, internal: A rare disorder where abnormalities of the anal muscles results in severe intermittent anal pain. The pain occurs at intervals during the day and every hour during the night.
  • Andersen-Tawil syndrome: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium.
  • Angiopathy, hereditary, with nephropathy, aneurysms and muscle cramps: An inherited disorder characterized by kidney disease, aneurysms, blood vessel disease and muscle cramps which can last from seconds to minutes.
  • Anotia -- facial palsy -- cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
  • Anterior horn disease: Any of a group of diseases that affect the anterior horn cells which make up part of the spinal cord. The anterior horn contains motor neurons which primarily affect the axial muscles. Symptoms will vary depending on the specific disease involved. Examples of such diseases includes Werdnig-Hoffmann disease, amyotrophic lateral sclerosis, spinal muscular atrophy, Charcot-Marie-Tooth disease, progressive muscular atrophy and polyiomyelitis.
  • Arima syndrome: A rare disorder characterized mainly by eye and brain abnormalities.
  • Arnold Stickler Bourne syndrome: A very rare syndrome characterized by muscle problems in hands, mouth and pharynx, kidney anomalies and corneal crystals.
  • 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.
  • Ataxia -- oculomotor apraxia, type 1: A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems.
  • Ataxia spastic congenital miosis: A rare, dominantly inherited disorder characterized mainly by ataxia, spasticity and small pupils that respond poorly to light.
  • Ataxia with fasciculations: A rare inherited disorder characterized by the association of a movement disorder called ataxia with muscle twitching (fasciculations) in the arms and legs.
  • Ataxia, episodic -- vertigo -- tinnitus -- myokymia: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress, exhaustion, sudden movements and exertion may trigger the episodes. It is caused by a defect on chromosome 1q42.
  • Atherosclerosis, premature -- deafness -- diabetes mellitus -- photomyoclonus -- nephropathy -- degenerative neurologic disease: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
  • 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.
  • Athetosis: Slow, continuous, involuntary writhing movements. Usually the hands and feet are involved but the face, tongue, neck and other muscle groups may also be involved.
  • Atonic seizure: Abnormal electrical activity in the brain which results in sudden loss of muscle tone. In mild cases, the head may simply drop down briefly but in more severe cases the person simply collapses to the floor. There is a high risk of injury in this type of seizure as the person collapses suddenly and can easily incur a head injury. The episode generally only lasts about 15 seconds. This form of seizure usually occurs with Lennox-Gastaut syndrome.
  • Atrial cardiomyopathy with heart block: Atrial heart disease involving a disruption of the electrical signals in the heart and causes heart rhythm problems.
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • 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:
  • BOR-Duane hydrocephalus contiguous gene syndrome: A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
  • Bahemuka Brown syndrome: A very rare syndrome characterized by spastic paraplegia and skin pigmentation irregularities.
  • Balo disease: A rare neurological disorder where the protective sheath around brain nerve fibres are progressively destroyed. Symptoms are determined by the size and location of the affected brain area.
  • Barth Syndrome: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 2 is characterized by its affects on the heart.
  • Bassoe syndrome: A very rare syndrome characterized primarily by hypogonadism, cataracts during infancy and muscle weakness.
  • Batten Disease: Rare childhood genetic degenerative nerve system disease.
  • Batten-Turner muscular dystrophy: A benign form of congenital muscular dystrophy involving relatively minor muscle wasting. The condition progresses slowly until adulthood.
  • 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 Fasciculation Syndrome: Common movement disorder manifesting in a fine (fast) tremor; it is an inherited condition of unknown cause.
  • Benign Multiple Sclerosis: Describes a type of relapsing-remitting multiple sclerosis in which few relapses occur. These relapses tend to produce sensory symptoms, which go away and leave very little or no residual damage or disability
  • 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.
  • Benign essential blepharospasm: A neurological disorder where certain eye muscles fail to function properly.
  • Benign essential tremor syndrome: A condition characterized mainly by tremor affecting usually then hands and head and the tremors may then slowly progress to other parts of the body.
  • Benign paroxysmal torticollis of infancy: A harmless condition characterized by recurring periods of head tilting resulting from dystonia (sustained muscle contractions) of the neck muscles. Other symptoms such as vomiting and irritability may also occur variably. Episodes tend to occur without any noticeable triggers and may last from hours to days. Episodes can occur as often as every two weeks or as infrequently as every couple of months.
  • Berardinelli-Seip congenital lipodystrophy: A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities.
  • Berardinelli-Seip congenital lipodystrophy, type 1: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 1 is distinguished from type 2 by the origin of the genetic defect. Type 1 is caused by a defect on the AGPAT2 gene on chromosome 9q34.3. Type 1 seems to be less severe with some cases of type 2 resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Berardinelli-Seip congenital lipodystrophy, type 2: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 2 is distinguished from type 2 by the origin of the genetic defect. Type 2 is caused by a defect on the BSCL2 gene on chromosome 11q13. Type 2 seems to be more severe with some cases resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Berger paresthesia: A rare disorder characterized by paresthesia and weakness in the lower legs.
  • Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
  • Bethlem myopathy: A rare, slow-progressing, genetic muscle disorder where the muscle gradually weaken and become wasted.
  • Bicep muscle strain: Damage to the bicep muscle in the arm due to over-stretching of the muscle tissue. The damage involves tearing the muscle tissue. Small blood vessels may also be damaged which can cause bruising. The symptoms may vary from mild to severe depending on the severity of the damage.
  • Bicipital syndrome: Dislocation of the bicipital tendon (the long head of the biceps tendon) due to some form of trauma.
  • Bicipital tendinosis: Inflammation of the bicipital tendon (the long head of the biceps tendon). Occurs mainly in athletes who engage in sports that involve throwing, swimming or golfing.
  • Bicipital tendonitis: Inflammation of the bicipital tendon (the long head of the biceps tendon). It is often associated with some sort of trauma or overuse. It is usually associated with rotator cuff disease.
  • 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.
  • Boylan-Dew-Greco syndrome: A very rare syndrome characterized primarily by insufficient myelination of peripheral nerves and contractures at birth. The myelin sheath is a protective coating around nerves.
  • Brachial Neuritis: Condition where there is a sudden onset of shoulder weakness and pain, thought to be due to a viral infection of the nerve roots in the cervical spine
  • Brachial Plexus Injury: Damage to the nerves controlling the shoulder and arm (often from childbirth).
  • Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys: A rare syndrome characterized by short digits, absent chest muscles and absent or underdeveloped kidneys.
  • 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.
  • Brown syndrome: A rare eye disorder characterized by inability to move the affected eye upwards due to an abnormality in the muscle that controls the eye movement. The condition may be congenital or result from an underlying condition or an injury.
  • Brown-Sequard Syndrome: A disorder where spinal cord compression and lesions involve only half of the spinal cord.
  • Brown-Vialetto-Van Laere syndrome: A very rare progressive disorder characterized by nerve deafness and cranial (and sometimes spinal) nerve paralysis.
  • Bruns-Garland syndrome: Spinal cord damage that occurs in some diabetics and results in weakness and wasting in the arms and legs.
  • Brushfield-Wyatt syndrome: A rare syndrome characterized mainly by mental deficiency, weakness on one side of the body and large port-wine stains that cover about a third of the skin's total surface. This condition may be a variant of another condition called Sturge-Weber syndrome.
  • Bruyn-Scheltens syndrome: A rare syndrome characterized by limb weakness and muscle wasting in the hands and feet.
  • CFS subtype 1 (cognitive, musculoskeletal, sleep, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 1 tends to be more severe with the dominant symptoms being anxiety, depression and cognitive, musculoskeletal and sleeping problems.
  • CFS subtype 2 ( musculoskeletal, pain, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 2 tends to be more severe with the dominant symptoms being anxiety, depression, pain and musculoskeletal problems.
  • CFS subtype 3 (mild): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 3 tends to have milder symptoms than other subtypes.
  • CFS subtype 4 (cognitive, musculoskeletal, sleep, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 4 tends to be dominated by cognitive symptoms.
  • CFS subtype 5 (musculoskeletal, gastrointestinal): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 5 tends to be dominated by musculoskeletal and gastrointestinal symptoms.
  • CFS subtype 6 (postexertional): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 6 tends to be dominated by excessive fatigue following exertion.
  • CFS subtype 7 (pain, infectious, musculoskeletal, sleep, neurological, gastrointestinal, neurocognitive, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 7 tends to be more severe with the dominant symptoms being pain, infections, anxiety, depression and musculoskeletal, sleep, neurological, gastrointestinal and neurocognitive problems.
  • Calf muscle strain: Damage to the calf muscle due to over-stretching of the muscle tissue. The damage involves tearing the muscle tissue. Small blood vessels may also be damaged which can cause bruising. The symptoms may vary from mild to severe depending on the severity of the damage.
  • Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
  • Camptodactyly -- joint contractures and facial skeletal dysplasia: A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly).
  • Camurat-Engelmann disease, type 2: A rare syndrome characterized by a range of abnormalities including waddling gait, muscle weakness, knee and hip contractures, delayed puberty and leg pain.
  • Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
  • Camurati-Engelmann Disease: A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain.
  • Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called cytochrome C oxidase (COX) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hear, brain and kidneys as well as the muscles.
  • Cardiomyopathy: Any disease of the heart muscle
  • Cardiomyopathy -- hearing loss, type t RNA lysine gene mutation: A rare inherited disorder characterized by heart muscle disease and deafness. The deafness is inherited from the mother and is caused by a genetic defect. Patients may be asymptomatic for a number of years. The rate of progression of the disorder is variable with some patients being asymptomatic until adulthood.
  • Cardiomyopathy -- hearing loss, type tRNA-LYS gene mutation: A rare inherited condition characterized by the association of cardiomyopathy and deafness.
  • Cardiomyopathy -- hypogonadism -- metabolic anomalies: A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism.
  • Cardiomyopathy -- hypotonia -- lactic acidosis: A rare syndrome characterized by heart muscle disease, reduced muscle tone and lactic acidosis from birth.
  • Cardiomyopathy -- renal anomalies: A rare syndrome characterized by heart muscle disease and defects in the genitourinary system.
  • Cardiomyopathy -- spherocytosis: A rare disorder characterized by the association of spherocytosis with heart muscle disease. Spherocytosis is a red blood cell disorder where the red blood cells have abnormal membranes which gives them a spherical shape and makes them weak resulting in their premature death.
  • Cardiomyopathy diabetes deafness: A rare syndrome characterized by the association of heart muscle disease, diabetes and deafness.
  • Cardiomyopathy dilated 10: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the heart's ability to function normally. The disorder is caused by the degeneration of the heart's conduction system. Type 10 is caused by a defect in the ABC9 gene on chromosome 12p12.1.
  • Cardiomyopathy dilated 1B: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1B is caused by a defect on chromosome 9q13.
  • Cardiomyopathy dilated 1C: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1C is caused by a defect in the LDB3 gene on chromosome 10q21-q23.
  • Cardiomyopathy dilated 1D: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1D is caused by a defect in the cardiac troponin gene on chromosome 1q32.
  • Cardiomyopathy dilated 1E: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1E is caused by a defect in the SCN5A gene on chromosome 3p21.
  • Cardiomyopathy dilated 1G: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1G is caused by a defect in the titin gene on chromosome 2q24.3.
  • Cardiomyopathy dilated 1H: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1H is caused by a defect on chromosome 2q14-q22.
  • Cardiomyopathy dilated 1I: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1I is caused by a defect in the desmin gene on chromosome 2q35.
  • Cardiomyopathy dilated 1J: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Hearing impairment also becomes apparent by the end of the second decade. Type 1J is caused by a defect in the LDB3 gene on chromosome 6q23.
  • Cardiomyopathy dilated 1K: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1K is caused by a defect on chromosome 6q12-q16.
  • Cardiomyopathy dilated 1L: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1L is caused by a defect in the delta-sarcoglycan gene on chromosome 5q33.
  • Cardiomyopathy dilated 1M: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1M is caused by a defect in the CSRP3 gene on chromosome 11p15.1.
  • Cardiomyopathy dilated 1P: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1P is caused by a defect in the phospholamban gene on chromosome 6q22.1.
  • Cardiomyopathy dilated 1Q: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1Q is caused by a defect on chromosome 7q22.3-q31.1.
  • Cardiomyopathy dilated 1S: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1S is caused by a defect in the heavy chain myosin 7 gene on chromosome 14q12.
  • Cardiomyopathy dilated 1T: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1T is caused by a defect in the TMPO gene on chromosome 12q22.
  • Cardiomyopathy dilated 1U: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1U is caused by a defect in the PSEN1 gene on chromosome 14q24.3.
  • Cardiomyopathy dilated 1W: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1W is caused by a defect in the metavinculin gene on chromosome 10q22.1-q23.
  • Cardiomyopathy dilated 1Y: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the heart's conduction system. Type 1Y is caused by a genetic defect on chromosome 15q25.1.
  • Cardiomyopathy dilated 1Z: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the heart's conduction system. Type 1Z is caused by a genetic defect on chromosome 3p21.2-p14.3.
  • Cardiomyopathy dilated 2A: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 2A is caused by a defect in the TNNI3 gene on chromosome 19q13.4.
  • Cardiomyopathy dilated 3B: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 3B is caused by a defect in the dystrophin gene on chromosome Xp21.2. Males tend to be more severely affected than males with death occurring within about a year from the onset of symptoms. Symptoms in males tend to occur by the age of 21 and females tended to have an onset during their fifth decade of life with a relatively slower course of progression than in males.
  • Cardiomyopathy dilated with conduction defect: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system.
  • Cardiomyopathy dilated with conduction defect type 1: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1 is caused by a defect in the lamin A/C gene on chromosome 1q21.
  • Cardiomyopathy dilated with conduction defect type 2: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 2 is caused by a defect in the cardiac sodium channel gene on chromosome 3p21.
  • Cardiomyopathy due to anthracyclines: Damage to the heart muscle caused by anthracycline drugs which are used in chemotherapy. The damage occurs more frequently with higher cumulative doses. Often the patients have no symptoms of the heart damage for many year.
  • Cardiomyopathy with myopathy due to COX deficency: A rare condition where an enzyme (cytochrome c oxidase) deficiency results in muscle disease which also affects the heart.
  • Cardiomyopathy with myopathy due to COX deficiency: A respiratory chain disorder resulting in muscle and heart symptoms.
  • Cardiomyopathy, Alcoholic: A weakened heart mucle due to excessive alcohol consumption. Symptoms are usually not evident until the heart becomes severely damaged.
  • Cardiomyopathy, X-linked, fatal infantile: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The condition occurs during infancy and results in death.
  • Cardiomyopathy, dilated, with Woolly hair and keratoderma: A rare syndrome characterized by heart muscle disease involving dilation of the heart ventricles, woolly hair and thickened skin on the palms and soles.
  • Cardiomyopathy, familial dilated: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally.
  • Cardiomyopathy, fatal fetal, due to myocardial calcification: A rare syndrome characterized by heart muscle disease caused by calcium deposits in the heart muscle. The disorder causes fetal death.
  • Cardiomyopathy, hypogonadism, collagenoma syndrome: A rare inherited condition characterized primarily by skin nodules. The skin nodules may be associated with organ system involvement resulting in a variety of other symptoms.
  • Cardiomyopathy, infantile histiocytoid: A rare form of heart muscle disease that occurs during infancy and is caused by the presence of abnormal cells in the heart muscle.
  • 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.
  • Carpal spasm: Also known as carpopedal spam. It is the spasm of the hands or feet.
  • Carpopedal spasm: Spasm of hand or foot seen in tetany.
  • Cat's cry: A chromosomal disorder marked by microcephaly, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic catlike whine
  • Catalepsy: Complete trance-like mental detachment
  • Cataplexy: A rare condtion characterized by episodes of severe muscle weakness which can sometimes lead to a complete collapse - it usually occurs in people with a sleep disorder called narcolepsy.
  • Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
  • Central Core Disease: A disorder characterized mainly by muscle weakness from infancy.
  • Centronuclear myopathy, congenital: A severe inherited form of muscle wasting disease which often results in infant death.
  • 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.
  • Cerebelloparenchymal autosomal recessive disorder 3: A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems.
  • Cerebelloparenchymal disorder 3: A rare disorder characterized by mental deficiency and delayed development of speech and motor skills. The condition is nonprogressive and is caused by degeneration of a part of the brain called the cerebellum.
  • Cerebelloparenchymal disorder V: An inherited brain disorder characterized by myoclonic jerks which become more apparent during voluntary movements.
  • Cerebellum agenesis -- hydrocephaly: A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation.
  • 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.
  • Chagas Cardiomyopathy: Heart disease that can occur as a complication of a chronic parasitic infection caused by the protozoa Trypanosoma cruzi and transmitted by insect bites or blood transfusions.
  • 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, 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. Type X3 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.
  • Chikungunya fever-like intense Muscle aches: Also known as myalgia. The most common causes are overuse or over-stretching of a muscle or group of muscles. Myalgia without a traumatic history is often due to viral infections. Long-term myalgia maybe indicative of metabolic myopathy, nutritional deficiencies or chronic fatigue syndrome.
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • Chorea: Any disorder causing involuntary movement or spasms.
  • Chorea familial benign: A rare movement disorder which is stable and involves abnormal involuntary movements (chorea) and continuous writhing movements.
  • Chorea, remitting with nystagmus and cataracts: A rare inherited disorder characterized by chorea and involuntary horizontal eye movements that start in infancy and improve or disappear by the age of 10. Cataracts were also present.
  • Choreiform movements as seen in rheumatic fever: Rheumatic fever is an inflammatory disease which may develop two to three weeks after a Group A streptococcal infection. Sydenham chorea which are involuntary, forcible, rapid, jerky movements occur later in the disease. Other conditions which present with chorea include
  • Choreoacanthocytosis amyotrophic: A rare inherited disease involving neurological degeneration and abnormal red blood cell shape. The disorder progresses slowly and causes involuntary movements, loss of cognitive ability, behavioral changes and seizures.
  • Choreoathetosis: Choreoathetosis is the occurrence of involuntary movements in a combination of chorea and athetosis.
  • Choreoathetosis-spasticity, episodic: A dominantly inherited movement disorder characterized by episodes of involuntary movments. Symptom episodes are often triggered by fatigue, alcohol, physical exertion and stress.
  • Chronic Fatigue Syndrome: Severe chronic fatigue disorder often following infection.
  • Chronic fatigue syndrome- like myalgia: Pain in the muscles.
  • Chvostek's sign: Indication of tetany which occurs when tapping over the facial nerve.
  • Cirrhosis-like flapping tremens: Asterixis (also called the flapping tremor) is a tremor of the wrist when the wrist is extended (dorsiflexion).
  • Cirrhotic cardiomyopathy: Cirrhotic cardiomyopathy refers to heart problems associated with liver cirrhosis. Often the condition is asymptomatic but stresses on the body such as infection, surgery or organ transplant can exacerbate the condition.
  • Claudication pain: Pain that occurs in the legs when walking or exercising. It is usually the result of circulation problems which affects the flow of blood to the leg muscles. In severe cases, the pain may persist even when the patient is inactive.
  • Clonic seizures: Abnormal electrical activity in a part of the brain which results in rhythmic jerking limb movements. Limbs on one or both side of the body may be affected. The duration of the episodes is variable but usually only lasts a few minutes. Clonic seizures can occur at any age and episodes are generally not followed by tiredness and confusion. Clonic seizures usually start in early childhood.
  • Coarse face -- hypotonia -- constipation: A very rare syndrome characterized by coarse facial features, poor muscle tone and constipation.
  • Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Cogwheel rigidity: Rigidity in which the muscles respond with cogwheel-like jerks to the use of force in bending the limb
  • Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
  • Colver-Steer-Godman syndrome: A very rare syndrome characterized mainly by a rigid spine and heart muscle disease.
  • Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
  • Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome.
  • Complex 4 mitochondrial respiratory chain deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. There are two subtypes: the benign infantile type only affects muscles whereas the fatal infant type affects the hearty and kidneys as well as the muscles.
  • Complex 4 mitochondrial respiratory chain deficiency, benign infantile myopathy: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. The deficiency generally only affects the muscle tissue
  • Complex 4 mitochondrial respiratory chain deficiency, fatal infant myopathy type: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hearty and kidneys as well as the muscles.
  • Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).
  • 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 absence of the sternocleidomastoid muscle: Absent neck muscle - in particular, the muscle that runs from behind the ear and down to the collar bones. These muscles allow the hear to flex and rotate. One or both of the muscles may be absent.
  • Congenital benign spinal muscular atrophy dominant: A very rare syndrome characterized by non-progressive muscle weakness that affects mainly the legs.
  • Congenital contractures: A muscle condition present from birth where the muscles are abnormally contracted or short. One or more muscles may be involved and the degree of involvement of the individual muscle may vary.
  • Congenital fiber type disproportion: A rare inherited disease involving abnormalities in the growth of type I muscle fibers.
  • 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 syndrome with episodic apnea: A disorder characterized by muscular weakness.
  • Congenital myasthenic syndromes: A group of genetic condition characterized by abnormal neuromuscular signals. Symptoms tend to become worse with exertion.
  • Congenital myopathy: A very rare inherited disorder where muscles are overly-responsive to stimuli because of an abnormality in the muscle membranes. It causes prolonged muscle contraction which is muscle stiffness. The two main forms of myotonia congenital are Thomsen and Becker disease which are respectively inherited dominantly and recessively.
  • 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.
  • Congenital torticollis: A rare condition characterized by a twisted neck at birth.
  • Contractures -- ectodermal dysplasia -- cleft lip palate: A very rare syndrome characterized by impaired joint mobility at birth, skin problems, cleft lip or palate and growth and psychomotor retardation.
  • Contractures hyperkeratosis lethal: A rare fatal congenital syndrome where numerous abnormalities arise from reduced fetal movement due to excessively tight skin.
  • Contractures, congenital, torticollis and malignant hyperthermia: A very rare syndrome characterized by contractures, torticollis and a hyperthermic reaction to general anesthetics.
  • Contralateral athetosis: Athetosis, an extrapyramidal sign, is characterized by slow, continuous, and twisting involuntary movements. Typically, these movements involve the face, neck, and distal extremities, such as the forearm, wrist, and hand.
  • Convulsions: Involuntary spasms especially those affecting the full body
  • Convulsions benign familial neonatal dominant form: A rare dominantly inherited type of epilepsy that occurs in newborns. The seizures can occur during sleep or while awake and may be partial or generalized.
  • Convulsions, benign familial infantile, 1: An inherited form of seizures that occurs in infancy and early childhood. Symptoms only occur during the seizures. The seizures tend to occur in clusters.
  • Convulsions, benign familial infantile, 3: An inherited form of seizures that occurs in infancy and early childhood. Symptoms only occur during the seizures. The seizures tend to occur in clusters. Type 3 is linked to a genetic defect on chromosome 2q23-q24.3.
  • Convulsions, benign familial infantile, 4: An inherited form of seizures that occurs in infancy and early childhood. Symptoms only occur during the seizures. The seizures tend to occur in clusters. Type 4 is linked to a genetic defect on chromosome 1p36.12-p35.1.
  • 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.
  • Corpus callosum dysgenesis cleft spasm: A rare condition characterized by the association of abnormal development of the part of the brain called the corpus callosum, cleft lip or palate and spasms. Variable other symptoms may also be present.
  • Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Cramp: The painful spasmodic muscular contraction
  • Cramp-fasciculations syndrome: A rare condition characterized by muscle pain, cramps, twitching, spasms and other abnormal sensations that occur mainly in the limbs.
  • Craniosynostosis contractures cleft: A rare condition characterized by the association of premature fusion of skull bones (craniosynostosis), contractures and oral clefting.
  • Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
  • Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.
  • Cruse Syndrome: A condition observed in four generations of one family. It is characterized by hearing impairment, trigeminal neuralgia and peripheral nervous system problems. The nature and severity of the symptoms vary amongst patients. Hearing loss usually starts between the fourth and sixth decade of life.
  • Cutler Syndrome: A rare disorder characterized by multisystem disorders including muscle wasting, ataxia, epilepsy, anemia and kidney disease. The kidney disease is most likely present at birth.
  • Cyprus facial neuromusculoskeletal syndrome: A rare inherited syndrome characterized by variable neurological, muscular and skeletal abnormalities as well as a characteristic face.
  • Cytochrome C Oxidase Deficiency: Cytochrome C oxidase deficiency is a rare inherited condition involving insufficient quantities of the cytochromc C oxidase enzyme. This enzyme plays a role in the functioning of the energy producing part of body cells (mitochondria) and its deficiency impairs the energy-producing functions of the cells. The type and severity of symptoms can vary considerably depending on which particular cells in the body are affected and the degree of the enzyme deficiency. In some cases only skeletal muscles are affected whereas in other cases organs such as the heart and brain are involved. In other cases, the whole body may be involved.
  • Cytoplasmic body myopathy: A rare group of muscle diseases caused by protein deposits inside the muscle cells. The severity, rate of progression and extent of muscle involvement is variable.
  • Dancing Eye syndrome: Dancing eye syndrome is a rare neurological condition characterized by abnormal eye movements where the eyes seem to move randomly all over the place. Jerky limb movements are also often present. The severity of the condition and response to treatment varies considerably amongst patients.
  • Davis-Lafer syndrome: A very rare syndrome characterized mainly by mental retardation and unusual facial features.
  • De Grouchy Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • 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.
  • Deafness, vitiligo, achalasia: A rare disorder characterized by deafness, achalasia (difficulty swallowing) and patches of reduced pigmentation in the skin (vitiligo).
  • Degenerative motor system disease: Any of a number of condition characterized by destruction of nerves that carry signals to muscles (motor neurons) and results in various muscle problems. The nerve destruction is often progressive leading to increasingly severe muscle problems.
  • Dejerine-Klumpke syndrome: A rare condition where a lower spine lesion causes paralysis of the forearm and hand muscles as well as eye problems. The lesion may occur during birth or as a result of infection, tumor or trauma.
  • 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.
  • Delta-sarcoglycanopathy: A very rare syndrome characterized mainly by progressive wasting and weakness of muscles in the shoulder and pelvis.
  • Dentatorubral pallidoluysian disorder: Pain occurring along the root of the cranial nerves
  • 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.
  • Dermatomyositis: A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash.
  • 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.
  • Desmin-related myopathy with Mallory body-like inclusions: A group of muscle disorder characterized by the build up of a protein called desmin in the muscle tissue. The severity of the disorder is variable.
  • Developmental delay -- hypotonia extremities hypertrophy: A very rare syndrome characterized mainly by poor muscle tone, developmental delay.
  • Developmental malformations -- deafness -- dystonia: A rare syndrome characterized mainly by deafness, movement disorder and malformations that occur during fetal development.
  • Di Mauro-Hartlage syndrome: A rare inherited glycogen storage disorder involving a total absence of muscle phosphorylase needed to convert glycogen to glucose in the muscles. It is a rare, atypical variant of McArdle disease which causes death within months of birth.
  • Diaphragmatic paralysis: Diaphragmatic paralysis occurs when the muscles associated with breathing become do weak to function properly. Breathing becomes difficulty and severe cases can result in death if breathing assistance is not delivered. The condition can result from such things as motor neuron disease, trauma and myopathy.
  • Dilated cardiomyopathy: A rare chronic heart muscle condition where one or both heart ventricles are dilated or have impaired contractility.
  • Diomedi-Bernardi-Placidi syndrome: A very rare syndrome characterized mainly by epilepsy, mental retardation and progressive leg weakness and spasticity.
  • Disorder of Cornification 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
  • Disseminated Sclerosis with Narcolepsy: A rare condition characterized by the association of narcolepsy with multiple sclerosis. Narcolepsy is a sleep disorder where characterized by the classic tetrad of excessive daytime sleepiness, cataplexy, hypnagogic hallucinations and sleep paralysis.
  • Distal Myopathy 1: An inherited muscle condition that tends to mainly affect the end portions of arms and legs - hands, feet, forearms and lower legs. There are three subtypes which are distinguished by the origin of the genetic defect. Type 1 is linked to a defect on chromosome 14q12. The disease progresses slowly and starts in the ends of the limbs but usually also involves the neck and eventually abdominal muscles.
  • Distal arthrogryposis syndrome: A rare genetic disorder characterized by congenital contractures and other physical defects.
  • Distal hereditary motor neuropathy, type V: An inherited condition characterized by progressive muscle weakness in the hands and feet due to nerve cell damage in the spinal cord.
  • Distal muscle weakness: The muscle examination is critical in the diagnostic evaluation of patients complaining of weakness or presenting with functional motor problems. Together with the history and general physical examination, demonstrating the presence of true muscle weakness is the first step in this evaluation. Laboratory and electrophysiologic studies of nerves and muscles and muscle biopsy may then be required to complete the evaluation. Serial measurements of muscle strength and function are also necessary in the long-term follow-up of patients with neuromuscular disorders to determine response to treatment.
  • Distal myopathy: An inherited muscle condition that tends to mainly affect the end portions of arms and legs - hands, feet, forearms and lower legs.
  • Distal myopathy with posterior leg and anterior upper limb involvement: A muscle disease which starts relatively early in life (adolescence or early adulthood) and progresses slowly.
  • Distal myopathy with vocal cord weakness: A very rare syndrome characterized mainly by muscle weakness in the end portion of the arms and legs as well as the vocal cord and pharynx.
  • Distal myopathy, Markesbery-Griggs type: A very rare muscle disease which mainly affects the front of the lower leg.
  • Distal myopathy, Welander type: A very slowly progressing muscle fiber degeneration that starts as mild weakness in the small muscles of hands and feet and may eventually spread to neighboring muscles.
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • 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.
  • Doxorubicin-induced cardiomyopathy: Heart disease caused by the use of a cancer drug called Doxorubicin.
  • Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
  • Dyck Syndrome: A very rare condition observe in two brothers. It involves vision, hearing, muscle, sensory and adrenal system problems and an enlarged liver and spleen.
  • Dysharmonic skeletal maturation -- muscular fiber disproportion: A very rare syndrome characterized mainly by abnormal bone development and muscle problems.
  • 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.
  • Ectomorphic Habitus -- Severe Mental Retardation -- Characteristic Face: A rare condition characterized by severe mental retardation, underweight build and a characteristic facial appearance.
  • Ehlers-Danlos syndrome type VI: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities.
  • Emerinopathy: A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting.
  • 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.
  • Eosinophilia-myalgia syndrome: A rare condition that occurs in some people who take the antidepressant L-tryptophan.
  • 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.
  • Epilepsy with myoclonic absences: A epileptic disorder which involves uncontrollable, rhythmic jerks of the limb.
  • Epilepsy with myoclonic-astatic crisis: A form of childhood epilepsy which is associated with a sudden loss of muscle tone which often results in the sufferer falling over and possibly injuring themselves.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 1: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 6p12-p11.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 2: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 15q14.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 3: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 6p21.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 4: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 5q12-q14.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 5: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 5q34-q35.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 6: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 2q22-q23.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 7: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 1p36.3.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 8: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 3q26.
  • Epilepsy, generalized -- paroxysmal dyskinesia: An epileptic disorder characterized by generalized epilepsy and sudden episodes of involuntary abnormal movements. The abnormal movements may be triggered by fatigue, stress or alcohol. Patients may suffer only the seizures or only the dyskinesia or both.
  • Epilepsy, myoclonic progressive familial: A progressive central nervous system disorder characterized by involuntary muscle jerking that can involve just the limbs or the whole body.
  • Epilepsy, progressive myoclonic 3: A genetic disorder involving the early onset of progressive myoclonic epilepsy. The infant develops normally for the first year or so of life and the seizures start usually before the age of two. Once the seizures start, neurological degeneration begins.
  • Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp: A rare disorder characterized by epilepsy, writer's cramp seizures and sudden exercise-induced dystonia. The dystonia could occur in the neck, face, trunk or limbs. The writer's cramp tended to start during childhood and continue into adolescence.
  • Epilepsy-like myoclonic jerks: The myoclonic twitches or jerks are usually caused by sudden muscle contractions; they also can result from brief lapses of contraction.
  • 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.
  • Erb-Goldflam: An inherited disorder characterized by a defect in the transmission of signals to the muscles which results in muscle weakness.
  • Essential tremor: It is a progressive neurological disease whose most recognizable feature is a tremor of the arms that is apparent during voluntary movements such as eating and writing.
  • 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.
  • Eye muscle strain: An eye disorder caused by strain on the eye muscles. The eyes become tired when being used intensely such as occurs when working on the computer, driving or reading, long periods of time straining to see in dim light or extremely bright lights. Eye refraction problems can also cause eye strain.
  • FACWA syndrome: A rare progressive neurological disorder involving degeneration of part of the brain (basal ganglia) and muscle wasting.
  • FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
  • FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
  • FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
  • FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
  • FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
  • FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
  • 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.
  • Facio-cardio-musculo-skeletal syndrome: A rare syndrome characterized by facial, heart, muscle and skeletal abnormalities.
  • Facioplegic migraine: Unilateral facial weakness occurring during a migraine.
  • 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.
  • Fahr's Syndrome: A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function.
  • Familial Febrile Convulsions: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures.
  • Familial Febrile Convulsions, 1: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 1 is linked to a defect on chromosome 8q13-q21
  • Familial Febrile Convulsions, 10: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 10 is linked to a defect on chromosome 3q26.2-q26.33.
  • Familial Febrile Convulsions, 2: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 2 is linked to a defect on chromosome 19p13.3.
  • Familial Febrile Convulsions, 3: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 3 is linked to a defect on chromosome 2q24.
  • Familial Febrile Convulsions, 3A: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 3A is linked to a defect on the SCN1A gene on chromosome 2q24.
  • Familial Febrile Convulsions, 3B: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 3B is linked to a defect in the SCN9B gene on chromosome 2q24.
  • Familial Febrile Convulsions, 4: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 4 is linked to a defect on chromosome 5q14.
  • Familial Febrile Convulsions, 5: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 5 is linked to a defect on chromosome 6q22-q24.
  • Familial Febrile Convulsions, 6: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 6 is linked to a defect on chromosome 18p11.2.
  • Familial Febrile Convulsions, 7: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 7 is linked to a defect on chromosome 21q22.
  • Familial Febrile Convulsions, 8: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 8 is linked to a defect on chromosome 5q31.1-q33.1.
  • Familial Febrile Convulsions, 9: Childhood seizures associated with fevers. Certain genetic defects are linked to a predisposition for developing these types of seizures. Type 9 is linked to a defect on chromosome 3p24.2-p23.
  • Familial dilated cardiomyopathy: A rare inherited heart muscle condition where one or both heart ventricles are dilated or have impaired contractility. The heart becomes unable to pump sufficient blood around the body.
  • Familial hematuria, autosomal dominant -- retinal arteriolar tortuosity -- contractures: A rare inherited disorder characterized by blood in the urine, contractures and retinal anomalies.
  • Familial hypertrophic cardiomyopathy 1: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 1 is caused by a defect on chromosome 14q12.
  • Familial hypertrophic cardiomyopathy 10: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 10 is caused by a defect in the MYL2 gene on chromosome 12q23-q24.
  • Familial hypertrophic cardiomyopathy 11: An inherited heart condition involving thickening of the walls of the heart chambers which reduces the size of the heart chambers which restricts the outflow of blood from the heart ventricle and results in heart muscle disease. The condition may not cause any symptoms and can result in sudden death. Type 11 is caused by a defect in the ACTC1 gene on chromosome 15q14.
  • Familial hypertrophic cardiomyopathy 12: An inherited heart condition involving thickening of the walls of the heart chambers which reduces the size of the heart chambers which restricts the outflow of blood from the heart ventricle and results in heart muscle disease. The condition may not cause any symptoms and can result in sudden death. Type 12 is caused by a defect in the CSRP3 gene on chromosome 11p15.1.
  • Familial hypertrophic cardiomyopathy 2: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 2 is caused by a defect in the troponin-T2 gene on chromosome 1q.
  • Familial hypertrophic cardiomyopathy 3: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 3 is caused by a defect in the alpha-tropomyosin gene on chromosome 15q22.1.
  • Familial hypertrophic cardiomyopathy 4: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 4 is caused by a defect in the cardiac myosin binding protein-C gene on chromosome 11p11.2.
  • Familial hypertrophic cardiomyopathy 5:
  • Familial hypertrophic cardiomyopathy 6: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 6 is caused by a defect on chromosome 7q31-qter.
  • Familial hypertrophic cardiomyopathy 7: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 7 is caused by a defect in the TNNI3 gene on chromosome 19q13.4.
  • Familial hypertrophic cardiomyopathy 8: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 8 is caused by a defect in the MYL3 gene on chromosome 3p.
  • Familial hypertrophic cardiomyopathy 9: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 9 is caused by a defect in the TTN gene on chromosome 2q24.3.
  • Familial periodic paralysis: A familial condition involving recurring episodes of muscle weakness or paralysis. The episode may last for hours or days.
  • Familial visceral myopathy: A rare condition where the duodenum is dilated and the muscles don't function normally which affects the movement of digestive waste material through the intestines. The symptoms of the condition are similar to that caused by an intestinal obstruction.
  • Fanconi-ichthyosis-dysmorphism: A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months.
  • 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.
  • Febrile Seizures: Fever-caused seizures in infants or children.
  • Febrile convulsions, familial, 1: A dominantly inherited form of childhood seizures. Type 1 is caused by a defect on chromosome 8q13-q21.
  • Febrile convulsions, familial, 2: A dominantly inherited form of childhood seizures. Type 2 is caused by a defect on chromosome 19p.
  • Febrile convulsions, familial, 3: A dominantly inherited form of childhood seizures. Type 3 is caused by a defect in the SCN1A gene on chromosome 2q24.
  • Febrile convulsions, familial, 4: A dominantly inherited form of childhood seizures. Type 4 is caused by a defect in the GPR98 gene on chromosome 5q14.
  • Febrile convulsions, familial, 5: A dominantly inherited form of childhood seizures. Type 5 is caused by a defect on chromosome 6q.
  • Febrile convulsions, familial, 6: A dominantly inherited form of childhood seizures. Type 6 is caused by a defect on chromosome 18p.
  • Febrile convulsions, familial, 7: A dominantly inherited form of childhood seizures. Type 7 is caused by a defect on chromosome 21q22.
  • Febrile convulsions, familial, 8: A dominantly inherited form of childhood seizures. Type 8 is caused by a defect in the GABRG2 gene on chromosome 5q31.
  • Febrile convulsions, familial, 9: A dominantly inherited form of childhood seizures. Type 9 is caused by a defect on chromosome 3p24.2-p23.
  • Fernhoff-Blackston-Oakley syndrome: A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities.
  • Fibrodysplasia Ossificans Progressiva: A rare genetic connective tissue disorder characterized by a short toe, fibrous dysplasia and bone formation in muscles, ligaments, tendons and soft connective tissue.
  • Fibromyalgia: A difficult to diagnose condition affecting the muscles and/or joints
  • Fibrosis of extraocular muscles, congenital (FEOM): A group of rare congenital disorders of eye movement. The condition is caused by the dysfunction of the muscles that control eye movement or by the innervation of these muscles by the third cranial nerve (oculomotor nerve). The condition is not progressive.
  • Fibrosis of extraocular muscles, congenital with synergistic divergence: A rare congenital eye movement disorder involving droopy eyelids and limited eye movement. The condition is caused by the dysfunction of the muscles that control eye movement or by the innervation of these muscles by the third cranial nerve (oculomotor nerve). The condition is not progressive.

 

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