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Diseases » Movement disorders » Glossary
 

Glossary for Movement disorders

  • ARCA: A group of recessively inherited neurological disorders characterized mainly by cerebellar ataxia and usually with other additional abnormalities.
  • ARTS syndrome: A rare lethal syndrome characterized by deafness, optic atrophy and ataxia.
  • Acute Bokhoror: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute VE: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Viliuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Viliuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Vilyuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Vilyuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Adhesive abuse: Adhesive abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Adhesives include household glues, rubber cement and model aeroplane glue. These adhesives can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
  • Adhesive addiction: Adhesive addiction refers to the compulsive need to abuse adhesives (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Adhesives includes household glue, rubber cement and model airplane glue.
  • 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.
  • Adversive syndrome: A rare condition where the patient turns compulsively when trying to move forwards. It can be caused by damage to a part of the brain called the Brodmann's area, neurosurghery, brain tumor or other brain lesions.
  • Aerosol abuse: Aerosol abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Aerosols include air fresheners, hair spray, spray pain and deodorants. These aerosols can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
  • Aerosol addiction: Aerosol addiction refers to the compulsive need to abuse aerosol (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Aerosols includes spray pain, air freshener, deodorants and hair sprays.
  • Akathisia: Specific type of feeling of restlessness or anxiety (usually from medications)
  • Akinetic mutism: Damage to parts of the brain (e.g. demyelinization and hydrocephalus) which results in a person being unable to talk or move despite the fact that they appear alert at times.
  • Alopecia -- hypogonadism -- extrapyramidal disorder: A rare syndrome characterized by alopecia, progressive movement problems and a lack of gonadal function which affects puberty.
  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
  • Alternating Hemiplegia: Episodes of one-sided paralysis.
  • Alternating hemiplegia of childhood: A rare neurological disorder involving paralysis on one side of the body that is only temporary but occurs often. The extent of the paralysis is variable.
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Amyotrophic lateral sclerosis: A motor neuron disease involving progressive degeneration and eventual destruction of the function of nerves that control voluntary movement.
  • Amyotrophic lateral sclerosis 2, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 2 is caused by a defect on chromosome 2q33.
  • Amyotrophic lateral sclerosis 3: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 3 is caused by a defect on chromosome 18q21.
  • Amyotrophic lateral sclerosis 4, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 4 is caused by a defect on chromosome 9q34.
  • Amyotrophic lateral sclerosis 5: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 5 is caused by a defect on chromosome 15q15.1-q21.1.
  • Amyotrophic lateral sclerosis 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophic lateral sclerosis 7: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 7 is caused by a defect on chromosome 20p13.
  • Amyotrophic lateral sclerosis 8: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 9 is caused by a defect on chromosome 20q13.3 and is a dominantly inherited, late-onset form.
  • Amyotrophic lateral sclerosis type 1:
  • Amyotrophic lateral sclerosis, 11: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 11 is differentiated by the origin of the genetic defect involved (6q21).
  • Amyotrophic lateral sclerosis, 9: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 9 is differentiated by the origin of the genetic defect involved (14q11).
  • Amyotrophic lateral sclerosis, familial:
  • Amyotrophic lateral sclerosis, familial type 1: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 1 is characterized by adult onset and relatively fast progression of symptoms. It usually occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 2: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 2 is characterized by childhood or adolescent onset of symptoms which progress very slowly over decades. It occurs in an autosomal recessive pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 3: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 3 is characterized late adulthood onset of symptoms which progress slowly over 5 years. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 4: A generally fatal progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 4 is characterized by the onset of symptoms before the age of 25 and slow progression over the next few decades. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 5: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adolescent onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal recessive pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 6: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adult onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 7: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 7 is characterized adult onset of symptoms with progression varying between less than 5 years to several decades. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 8: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 8 is characterized by adult onset and relatively slow progression of symptoms. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, type 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex: A nerve degeneration disorder that involves progressive dementia and parkinsonism which ultimately leads to death.
  • Amyotrophic lateral sclerosis-parkinsonism/dementia complex 2: A nerve degeneration disorder that involves progressive dementia and parkinsonism which ultimately leads to death.
  • Anaemia, sideroblastic, X-linked -- ataxia: A very rare inherited disorder characterized by mild anemia and early onset neurological motor symptoms. The neurological symptoms tend to be relatively stable or slowly progressive with only occasional dependence on crutches or wheelchairs.
  • Anemia, sideroblastic spinocerebellar ataxia: A rare inherited condition characterized by anemia at birth as well as spinocerebellar ataxia (impaired ability to control voluntary movements).
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
  • Angiokeratoma -- mental retardation -- coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
  • Aniridia -- renal agenesis -- psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation.
  • Aniridia ataxia renal agenesis psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, ataxia, psychomotor retardation and abnormally kidneys.
  • Aniridia cerebellar ataxia mental deficiency: A rare inherited disorder characterized by a partial absence of the iris, mental retardation and impaired coordination of voluntary movements.
  • Anotia -- facial palsy -- cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
  • Antalgic gait: It is a deviation from normal gait that typically results from dysfunction of the nervous and/or musculoskeletal systems.
  • Anton-Vogt syndrome: A congenital disorder where a brain anomaly results in involuntary purposeless movements (choreathetosis). Excitement and activity can make symptoms worse.
  • Apraxia, Ideomotor: A movement disorder usually associated with damage to the left parietal lobe. Patients have difficulty translating and idea into a movement. It may also result from improper signal transmission to the motor cortex which controls movement. For example, they can use scissors automatically but have problems when they are specifically asked to use scissors.
  • Apraxia, oculomotor, Cogan type: A rare inherited condition where the person is unable to move eyes horizontally making it difficult to follow objects.
  • Arachnodactyly -- ataxia -- cataract -- aminoaciduria -- mental retardation: A rare syndrome characterized mainly by congenital cataracts, ataxia, mental retardation, abnormal amino acid metabolism and long, thin fingers.
  • 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.
  • Astasis: A term used to describe the inability to stand due to muscle coordination problems as opposed to muscel problems. It tends to occur as a result to damage to a part of the brain (frontal lobes).
  • Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
  • Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Ataxia -- hypogonadism -- choroidal dystrophy: A very rare disorder characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
  • 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 Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
  • Ataxia spastic congenital miosis: A rare, dominantly inherited disorder characterized mainly by ataxia, spasticity and small pupils that respond poorly to light.
  • Ataxia tapetoretinal degeneration: Conditions involving incoordination and an eye anomaly.
  • Ataxia with Vitamin E Deficiency: A rare disorder where a genetic disorder results in impaired vitamin E deficiency which in turn causes progressive neurological problems such as ataxia.
  • 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, Hereditary, Autosomal Dominant: A group of rare, dominantly inherited neuromuscular disorder involving degeneration of the brain and spinal cord. The range, progression and severity of symptoms can vary quite considerably depending on the genetic defect involved.
  • 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.
  • Ataxia, spastic with congenital miosis: A rare disorder characterized by movement problems of the limbs as well as an impaired pupil reaction to light (miosis).
  • Ataxia, spastic, 3, autosomal recessive: A recessively inherited disorder characterized mainly by spasticity and ataxia.
  • Ataxia-deafness syndrome: A rare syndrome characterized by the association of ataxia with deafness.
  • Ataxia-oculomotor apraxia syndrome: 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.
  • 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.
  • Atherosclerosis- deafness -- diabetes -- epilepsy -- nephropathy: 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.
  • Autosomal Dominant Charcot-Marie-Tooth with hearing loss: A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs.
  • Autosomal recessive limb-girdle muscular dystrophy, type 2G:
  • Autosomal recessive spastic paraplegia, type 11:
  • Bahemuka Brown syndrome: A very rare syndrome characterized by spastic paraplegia and skin pigmentation irregularities.
  • 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.
  • Baltic myoclonic epilepsy: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
  • Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Batten Disease: Rare childhood genetic degenerative nerve system disease.
  • Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • 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 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.
  • Bianchi's syndrome: Damage to a part of the brain (left parietal lobe) resulting in the loss of ability to read (alexia), comprehend language (sensory aphasia) and inability to carry out previously learned purposeful movements (apraxia). The damage may be caused by such things as stroke, trauma and cancer. The type and severity of symptoms are determined by the exact location and extent of damage to the brain.
  • Bielschowsky disease: An eye disorder where one eye tends to drift upwards while the other remains fixed.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Bobble-head doll syndrome: A rare condition where a child's head bobs up and down continuously due to either fluid on the brain or a large cyst in the third ventricle of the brain.
  • Borud Syndrome: A very rare syndrome characterized by numerous features including hearing and vision problems, heart muscle disease, ataxia and peripheral neuropathy.
  • 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.
  • Brachydactyly nystagmus cerebellar ataxia: A very rare syndrome characterized mainly by short digits, nystagmus and cerebellar ataxia.
  • Bradykinesia: A medical term used to describe slow execution of movements and the ability to adjust the body's position is reduced.
  • 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-Vialetto-Van Laere syndrome: A very rare progressive disorder characterized by nerve deafness and cranial (and sometimes spinal) nerve paralysis.
  • Brudzinski's sign: Involuntary flexion of the leg when flexing the neck.
  • CACH syndrome: A rare syndrome characterized mainly by childhood ataxia and reduced myelination of the cerebral nerves. Motor and mental development in the first few years of life is normal with progressive neurodegeneration occurring between 2 and 5 years of age. Fever and trauma to the head can speed up disease progression.
  • COACH syndrome: A very rare syndrome characterized by ataxia, gaps or holes in various eye structures, mental retardation, liver fibrosis and brain abnormalities.
  • 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.
  • Carpal spasm: Also known as carpopedal spam. It is the spasm of the hands or feet.
  • Catalepsy: Complete trance-like mental detachment
  • Cataract -- ataxia -- deafness: A rare syndrome characterized by cataracts, ataxia and progressive deafness.
  • Catatonia: Mental condition causing total rigidity
  • Cerebellar Ataxia, Deafness and Narcolepsy: A rare condition characterized by the association of narcolepsy, deafness and cerebellar ataxia. Narcolepsy is a sleep disorder where characterized by the classic tetrad of excessive daytime sleepiness, cataplexy, hypnagogic hallucinations and sleep paralysis.
  • 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 -- ectodermal dysplasia: A rare syndrome characterized by balance and coordination problems and teeth and hair abnormalities.
  • Cerebellar ataxia -- intellectual deficit -- optic atrophy -- skin abnormalities: A rare syndrome characterized by ataxia, mental retardation, optic atrophy and skin abnormalities.
  • Cerebellar ataxia syndrome: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia.
  • Cerebellar ataxia type 1, autosomal recessive: A slow progressing brain disorder characterized by ataxia and dysarthria.
  • Cerebellar ataxia, X-linked: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary.
  • 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, autosomal recessive: A group of rare, recessively inherited neurological disorders caused by abnormalities in the cerebellum and spinal cord. In some cases other parts of the body may be affected.
  • Cerebellar ataxia, dominant pure: A dominantly inherited form of ataxia that involves only the cerebellar system.
  • Cerebellar ataxia, infantile with progressive external ophthalmoplegia: A rare disorder characterized by cerebellar ataxia during infancy and progressive paralysis of eye muscles.
  • Cerebellar vermis hypoplasia -- oligophrenia -- congenital ataxia -- coloboma -- hepatic fibrosis: A very rare syndrome characterized by ataxia, gaps or holes in various eye structures, mental retardation, liver fibrosis and brain abnormalities.
  • Cerebelloparenchymal disorder V: An inherited brain disorder characterized by myoclonic jerks which become more apparent during voluntary movements.
  • 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.
  • Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
  • Ceroid lipofuscinosis, neuronal: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). The 10 different type of the disorder are distinguished by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
  • Ceroid lipofuscinosis, neuronal 10: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 10 involves a deficiency of cathepsin D and involves an initial period of normal development with neurodegenerative symptoms starting during the early school years.
  • Ceroid lipofuscinosis, neuronal 2, late infantile type: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (protease tri-peptidyl-peptidase) needed to process it.
  • Ceroid lipofuscinosis, neuronal 3, Juvenile: A progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapication within years and death within 10-15 years.
  • Ceroid lipofuscinosis, neuronal 4: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase 1) needed to process it.
  • Ceroid lipofuscinosis, neuronal 5: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 5 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 6, late infantile: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 6 usually occurs between the ages of 2 to 6 years. Type 6 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 7: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 7 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 8: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 8 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 8, northern epilepsy variant: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 8, northern epilepsy variant is distinguished from other types by the origin of the genetic defect. Mental retardation tended to occur by middle age despite normal development during the first few years of life.
  • Ceroid lipofuscinosis, neuronal 9: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 9 is distinguished from other types by the origin of the genetic defect.
  • Ceroid storage disease: A rare metabolic storage disease characterized by the abnormal deposits of a waxy substance called ceroid lipfuscin in various parts of the body such as the liver, spleen and intestinal lining.
  • Charcot disease: Charcot joint occurs in the presence of sensory or autonomic neuropathy and presents as progressive microtrauma resulting in joint destruction and deformity. It characteristically occurs in weight bearing joints such as the foot, ankle and knee.
  • Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
  • Charcot-Marie-Tooth disease (generic term): A group of inherited neurological disorders characterized by problems with the peripheral nerves. Muscle weakness, muscle wasting and sensory problems are the most common symptoms. The severity and age of onset of symptoms varies depending on the specific subtype of the disorder.
  • Charcot-Marie-Tooth disease -- deafness: Charcot-Marie-Tooth disease is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Charcot-Marie-Tooth disease and deafness involves the usual CMT symptoms as well as deafness.
  • Charcot-Marie-Tooth disease deafness recessive type: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.
  • Charcot-Marie-Tooth disease with ptosis and parkinsonism: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This particular type of CMT also involves a drooping upper eyelid and parkinsonism.
  • Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 5 has an autosomal dominant inheritance, progresses slowly and involves movement disorders.
  • Charcot-Marie-Tooth disease, Type 1A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1A is inherited as an autosomal dominant pattern and involves the duplication of the PMP22 gene on chromosome 17.
  • Charcot-Marie-Tooth disease, Type 1B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1B is inherited as an autosomal dominant pattern and involves a defect in the MPZ gene on chromosome 1. The severity of the condition is variable depending on the age of onset with severe infantile cases resulting in the inability to walk at an early age.
  • Charcot-Marie-Tooth disease, Type 1C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1C is inherited as an autosomal dominant pattern and involves a defect in the LITAF/SIMPLE gene on chromosome 16.
  • Charcot-Marie-Tooth disease, Type 1D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1D is caused by a defect of the ERG2 gene on chromosome 10 and usually results in a severe form of the disease.
  • Charcot-Marie-Tooth disease, Type 1E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness.
  • Charcot-Marie-Tooth disease, Type 1F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1F is caused by a defect of a gene in chromosome 8 and involves the neurofilament light chain protein.
  • Charcot-Marie-Tooth disease, Type 2A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
  • Charcot-Marie-Tooth disease, Type 2AI: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A1 has an autosomal dominant inheritance and involves a defect in the KIF1B gene on chromosome 1p36.
  • Charcot-Marie-Tooth disease, Type 2AII: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A2 has an autosomal dominant inheritance and involves a defect in the MFN2 gene on chromosome 1p36.
  • Charcot-Marie-Tooth disease, Type 2B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B has an autosomal dominant inheritance and involves a defect in the gene for the protein RAB 7 located on chromosome 3.
  • Charcot-Marie-Tooth disease, Type 2B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B1 has an autosomal dominant inheritance and involves a defect in the LMNA gene located on chromosome 1.
  • Charcot-Marie-Tooth disease, Type 2B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B2 has an autosomal dominant inheritance and involves a defect located on chromosome 19.
  • Charcot-Marie-Tooth disease, Type 2C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in chromosome 12 and involves diaphragm and vocal cord weakness as well as hand and foot problems.
  • Charcot-Marie-Tooth disease, Type 2D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2D has an autosomal dominant inheritance and involves a defect in the glycyl RNA synthetase gene on chromosome 7p15. The hands tend to be more severely affected than the feet.
  • Charcot-Marie-Tooth disease, Type 2E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in the neurofilament light gene on chromosome 8p21.
  • Charcot-Marie-Tooth disease, Type 2F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2F has an autosomal dominant inheritance and involves a defect in the HSPB1 gene on chromosome 7.
  • Charcot-Marie-Tooth disease, Type 2G: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2G has an autosomal dominant inheritance and involves a defect on chromosome 12.
  • Charcot-Marie-Tooth disease, Type 2H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2H has an autosomal recessive inheritance and involves a defect in the GDAP1 gene on chromosome 8.
  • Charcot-Marie-Tooth disease, Type 2I: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
  • Charcot-Marie-Tooth disease, Type 2J: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2J has an autosomal dominant inheritance and involves a defect on chromosome 1q22.
  • Charcot-Marie-Tooth disease, Type 2K: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2K has an autosomal dominant inheritance and involves a defect on chromosome 8.
  • Charcot-Marie-Tooth disease, Type 2L: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2L has an autosomal dominant inheritance and involves a defect in the HSPB8 gene on chromosome 12.
  • Charcot-Marie-Tooth disease, Type 4A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4A has an autosomal recessive inheritance and involves a defect in the GDAP 1 protein gene on chromosome 8. The recessive forms of CMT tend to be more severe than the dominant form and often involve hand and foot problems as well as additional systemic symptoms.
  • Charcot-Marie-Tooth disease, Type 4B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B1 has an autosomal recessive inheritance and involves a defect in MTMR2 gene on chromosome 11.
  • Charcot-Marie-Tooth disease, Type 4B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the CMT4B2 gene on chromosome 11.
  • Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This type is characterized by the involvement of glaucoma which starts during childhood.
  • Charcot-Marie-Tooth disease, Type 4C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the KIAA1985 gene on chromosome 5. It involves motor and sensory problems as well as scoliosis.
  • Charcot-Marie-Tooth disease, Type 4E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.
  • Charcot-Marie-Tooth disease, Type 4F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4F has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect in the PRX gene on Chromosome 19q13.
  • Charcot-Marie-Tooth disease, Type 4G: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4G has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect on Chromosome 10.
  • Charcot-Marie-Tooth disease, Type 4H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4H has an autosomal recessive form of inheritance and involves a defect on Chromosome 11.
  • Charcot-Marie-Tooth disease, X-linked: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.
  • Charcot-Marie-Tooth disease, X-linked recessive, 2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.
  • Charcot-Marie-Tooth disease, X-linked recessive, 4: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.
  • Charcot-Marie-Tooth disease, X-linked recessive, 5: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X5 is an inherited defect of the X chromosome and affects males to a greater degree than females. In addition to normal CMT symptoms it also involves deafness and eye problems.
  • Charcot-Marie-Tooth disease, X-linked, 1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X1 is an inherited defect of the X chromosome (defect in GJB1 gene) and affects males to a greater degree than females. Transient central nervous system symptoms are also sometimes involved.
  • Charcot-Marie-Tooth disease, demyelinating, autosomal dominant: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
  • Charcot-Marie-Tooth disease, dominant intermediate 1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in chromosome 10.
  • Charcot-Marie-Tooth disease, dominant intermediate 2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in the dynamin-2 gene on chromosome 19p13.2.
  • Charcot-Marie-Tooth disease, dominant intermediate 3: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in the tyrosyl-tRNA gene on chromosome 1p35.
  • Charcot-Marie-Tooth disease, type 1: A slow-progressing muscle disease characterized by muscle weakness and wasting that starts in the hands and feet. Very few patients become wheelchair dependent and life span is not affected. The disorder is inherited in an dominant pattern an involves demyelination of the nerves.
  • Charcot-Marie-Tooth disease, type 2: A rare inherited disorder characterized by abnormalities in the axon of the peripheral nerve cells instead of the myelin sheath coating of the nerves. The condition manifests as muscle weakness and wasting that usually starts in the legs and spreads to the hands and other parts of the body. The severity, age of onset and rate of progression of the condition varies depending on the genetic origin of the defect.
  • Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
  • Charcot-Marie-Tooth type 1 aplasia cutis congenital: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This form of the condition is inherited recessively and involves only mild muscle symptoms as well as a scalp defect.
  • Charcot-Marie-Tooth, demyelinating, autosomal recessive: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritance and is a severe form of the disease.
  • 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.
  • Chylomicron retention disease with Marinesco-Sjogren syndrome: A rare condition characterized by abnormal lipid metabolism, vitamin E deficiency, incoordination and short stature.
  • Cirrhosis-like flapping tremens: Asterixis (also called the flapping tremor) is a tremor of the wrist when the wrist is extended (dorsiflexion).
  • Cogwheel rigidity: Rigidity in which the muscles respond with cogwheel-like jerks to the use of force in bending the limb
  • Combarros Calleja Leno syndrome: A rare disorder characterized by the association of glaucoma at birth with a form of ataxia.
  • Congenital Bilateral Perisylvian Syndrome: A condition apparent at birth which causes partial paralysis, pseudobulbar palsy, dysarthria and dysohagia
  • Congenital Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease which usually results from autoimmune dysfunction. Congenital myasthenia gravis however results from a genetic defect. Symptoms tend to become worse during the day with activity and improve after rest or after sleeping. The severity of symptoms may vary.
  • Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
  • Congenital benign spinal muscular atrophy dominant: A very rare syndrome characterized by non-progressive muscle weakness that affects mainly the legs.
  • Congenital ichthyosis, microcephalus, quadriplegia: A rare birth disorder characterized by scaly skin, small head and paralysis of legs and arms.
  • Conorenal Syndrome: A rare inherited disorder characterized mainly by kidney failure, abnormal bone development (cone-shaped epiphyses), eye problems and ataxia.
  • 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.
  • Corneal cerebellar syndrome: A very rare syndrome involving eye problems and progressive motor control problems such as ataxia and weakness on one side of the body.
  • 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.
  • Corticobasal Degeneration: A rare progressive neurological disorder where parts of the brain deteriorate.
  • Cramp-fasciculations syndrome: A rare condition characterized by muscle pain, cramps, twitching, spasms and other abnormal sensations that occur mainly in the limbs.
  • 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.
  • 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.
  • De Barsy Syndrome: A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities.
  • 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 hyperuricemia neurologic ataxia: A rare inherited disorder characterized by a high level of uric acid in the blood, renal insufficiency, ataxia and deafness.
  • 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.
  • Decorticate posture: An abnormal body posture usually the result of damage to particular parts of the brain - midbrain, thalamus, internal brain capsule, cerebral hemispheres. The position involves elbows flexed inwards on the chest, clenched hands and fists and legs which are extended outwards and inwards.
  • Decorticate posture in children: An abnormal body posture occurring in children and usually the result of damage to particular parts of the brain - midbrain, thalamus, internal brain capsule, cerebral hemispheres. The position involves elbows flexed inwards on the chest, clenched hands and fists and legs which are extended outwards and inwards.
  • Decreased mobility: in some conditions the patients cannot move about
  • Decreased motion: this involves decreased movement in all joints due to a number of reasons
  • 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.
  • Delirium tremens: Delirium from alcohol withdrawal
  • Delta-sarcoglycanopathy: A very rare syndrome characterized mainly by progressive wasting and weakness of muscles in the shoulder and pelvis.
  • Dentatorubral Pallidoluysian Atrophy: A condition caused by an abnormality of the DNA sequence on chromosome 12
  • Developmental malformations -- deafness -- dystonia: A rare syndrome characterized mainly by deafness, movement disorder and malformations that occur during fetal development.
  • Difficulty making fine hand movements: Coordination in performing fine movements is the ability of the vision system to coordinate the information received through the eyes to control, guide, and direct the hands in the accomplishment of a given task, such as handwriting or catching a ball. Some of the chronic conditions which lead to this problem include
  • Dinno-Shearer-Weisskopf syndrome: A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies.
  • Diomedi-Bernardi-Placidi syndrome: A very rare syndrome characterized mainly by epilepsy, mental retardation and progressive leg weakness and spasticity.
  • 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 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.
  • Duane Syndrome: An inherited eye movement disorder. The eye opening narrows and the eyeball pulls backwards when the eyes look towards the nose.
  • Duane anomaly -- mental retardation: A very rare syndrome characterized mainly by mental retardation and eye movement problems (Duane anomaly).
  • Duane retraction syndrome 2: An inherited eye movement disorder where the eyes have difficulty looking towards the nose.
  • Duane retraction syndrome I: An inherited eye movement disorder where the eyes have difficulty looking outwards towards the ears.
  • Duane retraction syndrome IA: An inherited eye movement disorder where the eyes have difficulty looking outwards towards the ears and the eyes turn inwards when the person is looking straight ahead.
  • Duane retraction syndrome IB: An inherited eye movement disorder where the eyes have difficulty looking outwards towards the ears and the eyes turn outwards towards the ears when the person is looking straight ahead.
  • Duane retraction syndrome IC: An inherited eye movement disorder where the eyes have difficulty looking outwards towards the ears and the eyes face straight ahead when the person is looking straight ahead.
  • Duane retraction syndrome II: An inherited eye movement disorder where the eyes have difficulty looking towards the nose.
  • Duane retraction syndrome IIA: An inherited eye movement disorder where the eyes have difficulty looking towards the nose and the eyes turn inwards when the person is looking straight ahead.
  • Duane retraction syndrome IIB: An inherited eye movement disorder where the eyes have difficulty looking towards the nose and the eyes turn outwards towards the ears when the person is looking straight ahead.
  • Duane retraction syndrome IIC: An inherited eye movement disorder where the eyes have difficulty looking towards the nose and the eyes face straight ahead when the person is looking straight ahead.
  • Duane retraction syndrome III: An inherited eye movement disorder where the eyes have difficulty looking towards the nose and towards the ears.
  • Duane retraction syndrome IIIA: An inherited eye movement disorder where the eyes have difficulty looking towards the nose and towards the ears and the eyes turn inwards when the person is looking straight ahead.
  • Duane retraction syndrome IIIB: An inherited eye movement disorder where the eyes have difficulty looking towards the nose and towards the ears and the eyes turn outwards towards the ears when the person is looking straight ahead.
  • Duane retraction syndrome IIIC: An inherited eye movement disorder where the eyes have difficulty looking towards the nose and towards the ears and the eyes face straight ahead when the person is looking straight ahead.
  • Duane-radial ray syndrome: A very rare inherited disorder characterized by impaired control of eye movement and bone abnormalities in the hands and feet.
  • Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
  • Dysequilibrium syndrome: A very rare syndrome characterized mainly by mental retardation and nonprogressive incoordination.
  • Dyskinesia, paroxysmal: A term used to describe a group of neurological conditions involving periods of sudden, abnormal, involuntary movements. These movement may take many forms such as slow and writhing or rapid jerking motions. The muscles in any part of the body may be affected. The word paroxysmal refers to the fact that the episode of abnormal movements can occur suddenly and unpredictably and disappear rapidly.
  • 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
  • Early-onset non-progressive cerebellar ataxia syndrome, dominantly inherited: A rare, dominantly inherited disorder that starts early in life and is characterized by non-progressive incoordination.
  • East Syndrome: A rare syndrome characterized mainly by mental retardation, deafness, ataxia and electrolyte imbalance.
  • Ectodermal dysplasia -- hypohidrotic -- hypothyroidism -- ciliary dyskinesia: A rare syndrome characterized by alopecia (A), nail problems (N), eye problems (O - ophthalmic), thyroid dysfunction (T), reduced sweating (H - hypohidrosis), freckles (E-ephelides), intestinal disease (E - enteropathy) and respiratory tract infections (R).
  • Encephalopathy due to sulphite oxidase deficiency: An inborn error of metabolism where an enzyme (sulphite oxidase) deficiency results in encephalopathy. Symptoms usually start at birth.
  • 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.
  • Episodic ataxia syndrome: A rare genetic disorder characterized by episodes of incoordination and unsteadiness. Stress and exertion may trigger the episodes.
  • Episodic ataxia, type 1: A rare genetic disorder characterized by episodes of incoordination and unsteadiness and continuous muscle movement (myokymia). Stress and exertion may trigger the ataxic episodes which usually last for only a few minutes and can occur several times a day. Type 1 is caused by a defect in the potassium channel gene on chromosome 12p13.
  • Episodic ataxia, type 2: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus (rapid, involuntary eye movements). Stress, exertion, alcohol and coffee may trigger the episodes which can last from hours to days. Type 2 is caused by a defect in the calcium ion gene on chromosome 19p13.
  • Episodic ataxia, type 3: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress and exertion may trigger the episodes. Type 3 is caused by a defect on chromosome 1q42.
  • Episodic ataxia, type 4: A rare genetic disorder characterized by episodes of incoordination and unsteadiness. Stress and exertion may trigger the episodes. Type 4 is distinguished from the other types by it's late onset - 3rd to 6th decade.
  • Episodic ataxia, type 5: A rare genetic disorder characterized by episodes of incoordination, unsteadiness and seizures. Stress and exertion may trigger the episodes. Type 5 is caused by a defect on chromosome 2q22-q23.
  • Episodic ataxia, type 6: A rare genetic disorder characterized by episodes of incoordination and unsteadiness. Stress and exertion may trigger the episodes which tend to last for about half an hour. Type 6 is extremely rare and is caused by a defect on chromosome 5p13.
  • Episodic ataxia, type 7: A rare genetic disorder characterized by episodes of incoordination and unsteadiness which lasted from hours to days. Episodes occurred from monthly to yearly and the frequency tends to lessen with age. Stress and exertion may trigger the episodes. Type 7 is caused by a defect on chromosome 19q13.
  • Episodic kinesigenic dyskinesia 2: A dominantly inherited movement disorder involving episodes of abnormal involuntary movements. Episodes can last up to two minutes and can occur up to 20 times a day. Sudden movements often trigger the episodes.
  • Erb's Palsy: Paralysis of the arm or hand often related to childbirth injury (also Brachial plexus palsy).
  • Erythrokeratodermia ataxia: A rare inherited condition characterized by skin and nervous system disorders
  • Erythrokeratodermia with ataxia: A rare syndrome characterized by the association of a skin disorder with slowly progressive neurological symptoms.
  • 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.
  • Exercise: The use of the human muscles to improve ones health
  • 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.
  • 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.
  • Falls: When a person losses balance and falls over
  • 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 periodic paralysis: A familial condition involving recurring episodes of muscle weakness or paralysis. The episode may last for hours or days.
  • Fanconi-Turler syndrome: A rare syndrome characterized mainly by mental retardation, ataxia and uncoordinated eye movements due to degeneration of parts of the brain.
  • Fazio-Londe syndrome: A rare inherited motor neuron disease characterized by progressive muscle weakness which ultimately leads to premature death.
  • 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.
  • Feigenbaum-Bergeron-Richardson syndrome: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
  • Feline spongiform encephalopathy: A prion disease believed to affect felines in a similar fashion to bovine spongiform encephalitis
  • Fenton-Wilkinson-Toselano syndrome: A rare syndrome characterized mainly by ataxia, light sensitivity and short stature.
  • Festinating gait: The patient has difficulty starting, but also has difficulty stopping after starting. This is due to muscle hypertonicity.
  • Fetal akinesia syndrome, X-linked: A rare syndrome where the fetus is unable to move or has reduced mobility due to brain defects.
  • Fitzsimmons-Guilbert syndrome: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
  • Fitzsimmons-McLachlan-Gilbert syndrome: A very rare syndrome characterized mainly by mental retardation paraplegia and thickened coarse skin on palms and soles.
  • Fitzsimmons-Walson-Mellor syndrome: A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness.
  • Focal dystonia: A neurological condition that affects a localized muscle group causing the muscle to contract and twist. For example, foot dystonia can cause the muscles to contract and the toes to curl inwards. The disorder can occur in the limbs, larynx, jaw, neck trunk and other body parts.
  • Focal motor seizure: A focal motor seizure is an electrical disturbance that originates in a part of the brain involved with movement and results in corresponding movement symptoms. The muscles in any part of the body may be affected depending on the exact location of the portion of brain affected.
  • Friedreich ataxia: A progressive inherited neuromuscular disorder involving slow degeneration of the spinal cord and brain.
  • Friedreich ataxia -- congenital glaucoma: A rare disorder characterized by glaucoma at birth and a progressive neuromuscular disorder.
  • Friedreich's ataxia: Progressive muscle weakness from nerve damage.
  • Fronto-temporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17): A rare neurodegenerative disorder caused by a genetic anomaly and characterized by dementia and parkinsonism.
  • Furukawa-Takagi-Nakao syndrome: A very rare syndrome characterized by muscle weakness and wasting, ataxia, diabetes and eye problems.
  • Gamstorp-Wohlfart syndrome: A rare disorder characterized by muscle weakness, low muscle tone, increased sweating and muscle twitching (myokymia)
  • Generalized Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease resulting from autoimmune dysfunction. In generalized myasthenia gravis weakness develops mainly in the limbs and trunk. The severity of symptoms may vary amongst patients. Most patients suffer increased severity of symptoms during the day with improvement after sleeping.
  • Generalized epilepsy and paroxysmal dyskinesia: A rare disorder characterized mainly by generalized epilepsy and a movement disorder where abnormal involuntary movements occur suddenly and disappear quite rapidly also.
  • Genetic Parkinson disease: A type of Parkinson disease that results from a genetic anomaly. There are a more than ten different genes that can cause Parkinson disease.
  • Geniospasm: Periods of involuntary chin and lower lip tremors.
  • Gluten ataxia: Ataxia that apparently results from a sensitivity to gluten which is found in grains such as wheat and barley.
  • Gomez and Lopez-Hernandez syndrome: A rare genetic condition characterized by various abnormalities such as mental deficiency, small head, short stature, eye problems and movement problems.
  • Graeck-Imerslund disease:
  • Grand mal epilepsy: A condition characterize by sudden loss of consciousness with tonic-clonic seizures
  • Grasbeck-Imerslund Disease: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
  • Guam disease: A nerve degeneration disorder that occurs particularly in Guam and involves progressive dementia and parkinsonism which ultimately leads to death.
  • Guillain-Barre Syndrome: A rare progressive form of ascending polyneuropathy believed to be an autoimmune response.
  • Gustavson syndrome: A very rare condition characterized by features such as mental retardation, spasticity, seizures and eye and ear problems.
  • Hallervorden-Spatz Syndrome: A syndrome in which the nerve fibers which connect the striatum to the globus pallidus are completely demyelinated
  • Hallervorden-Spatz disease: Nerve disorder causing movement problems.
  • Harding ataxia: A rare neurological disorder primarily involving poor balance and coordination while tendon reflexes are not affected.
  • Hecht syndrome: A rare genetic disorder characterized by the inability to open the mouth due to short muscles as well as hand movement abnormalities also due to shortened muscles.
  • Hemiballismus: It is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion.
  • Hemiconvulsion-Hemiplegia-Epilepsy syndrome: An uncommon condition characterized by prolonged clonic seizures (usually involving one side of the body) followed by paralysis on the same side of the body affected by the seizure. Within a few years of this episode, partial epilepsy develops. The convulsions are usually preceded by an episode of fever and they may last for hours if left untreated.
  • Hemifacial Spasm: Repeated spasms of the face muscles.
  • Hereditary Congenital Facial Paresis: Hereditary Congenital Facial Paresis is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. There are two subtypes which differ in the origin of the genetic defect: type I is caused by a defect on chromosome 3q and type II is linked to a genetic defect on chromosome 10q. The facial paralysis may affect one or both sides of the face.
  • Hereditary Congenital Facial Paresis 2: Hereditary Congenital Facial Paresis II is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. It is linked to a genetic defect on chromosome 10q. The facial paralysis may affect one or both sides of the face.
  • Hereditary Congenital Facial Paresis I: Hereditary Congenital Facial Paresis I is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. It is linked to a genetic defect on chromosome 3q. The facial paralysis may affect one or both sides of the face.
  • Hereditary Congenital Facial Paresis II: Hereditary Congenital Facial Paresis II is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. It is linked to a genetic defect on chromosome 10q. The facial paralysis may affect one or both sides of the face.
  • Hereditary Spastic Paraplegia: A slow-progressing degeneration of the tract that connects the brain to the spinal cord (corticospinal tract) resulting in muscle spasticity, weakness and paralysis. The severity of symptoms is determined by the nature and extent of the damage.
  • Hereditary ataxia: Ataxia may depend on hereditary disorders consisting of degeneration of the cerebellum and/or of the spine
  • Hereditary cerebellar ataxia syndrome of early onset: An inherited form of cerebellar ataxia which has an early onset.
  • Hereditary non-progressive cerebellar ataxia syndrome of early onset: An inherited form of cerebellar ataxia which has an early onset and is not progressive.
  • Hereditary paroxysmal cerebral ataxia: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus (rapid, involuntary eye movements). Stress, exertion, alcohol and coffee may trigger the episodes which can last from minutes to days.
  • Hereditary spastic paralysis, infantile onset ascending: A rare inherited progressive condition where the muscles of the arms, legs and face become increasingly weak and stiff due to damage to nerve cells that control muscle movement. The legs are affected first and then the arms and face - the symptoms ascend up the body. This condition involves mutations in the same gene and overlapping symptoms with juvenile primary lateral sclerosis but the difference is that primary lateral sclerosis only involves degeneration of the upper motor neurons whereas infantile-onset spastic paralysis is more severe and involves degeneration of upper and lower motor neurons.
  • Huntington's Disease: Inherited disease causing progressive mental deterioration.
  • Hyde-Forster-Mccarthy-Berry syndrome: A very rare syndrome characterized mainly by mental retardation and an abnormal skull shape.
  • Hyperkinesis: Excessive uncontrolled muscle movement.
  • Hypertrophic neuropathy of Dejerine-Sottas: An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in numbness, muscle weakness and loss of function. The severity of the condition is variable.
  • Hypnic jerk: An involuntary muscle twitch that occurs in the transition between wakefulness and sleep. Patients are more prone to these twitches if they have a poor sleeping pattern or have been sleep deprived. The twitches usually only occur one or two times a night and are generally considered harmless.
  • Hypobetalipoproteinaemia -- ataxia -- hearing loss: A rare disorder characterized by the association of low blood betalipoprotein level, ataxia and hearing loss.
  • Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response: A very rare syndrome characterized by reduced muscle tone and nystagmus in infants and ataxia. The electrical signals in nerves that send messages from the ears to the brain were abnormal but usually there were no hearing problems
  • Idiopathic Parkinson's disease: Idiopathic Parkinson's disease is Parkinson's disease for which no particular cause can be determined - it is the most prevalent form of the condition. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Idiopathic double athetosis: A rare nervous system disorder characterized by slow, writing, involuntary movements which involves both sides of the body at the same time. It occurs for no apparent reason.
  • Idiopathic dystonia DYT1: A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
  • Idiopathic facial palsy: Weakness or paralysis of the facial muscles that occurs for no apparent reason. The condition is usually temporary and tends to resolve itself with the majority recovering fully within three weeks and the rest within a year. Usually only one side of the face is affected.
  • Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life.
  • Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
  • Infantile Spasms: Seizure condition in infants.
  • Infantile convulsions and paroxysmal choreoathetosis, familial: A very rare inherited syndrome characterized mainly by convulsions during infancy and choreoathetosis which can occur randomly or be triggered by certain stimuli such as exercise.
  • Infantile epileptic-dyskinetic encephalopathy: A genetic disorder characterized by severe epilepsy and dyskinesia that starts during infancy. This form of the condition is caused by a defect on the ARX gene.
  • Infantile onset spinocerebellar ataxia: A rare disorder that has neurological origins and causes progressive ataxia, impaired tendon reflexes, abnormal limb movements, and sensory, eye muscle and hearing impairment.
  • Infantile parkinsonism: A rare disorder of amino acid metabolism characterized by a defect in the enzyme tyrosine hydroxylase. The enzyme is needed to convert phenylalanine to dopamine.
  • Infantile striato-thalamic degeneration: A very rare disorder involving degeneration of part of the brain - thalamus and striatum.
  • Inhalant abuse: Inhalant abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Inhalants include gasoline, adhesives, solvents, and aerosols. These inhalants can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
  • Inhalant addiction: Inhalant addiction refers to the compulsive need to abuse inhalants (e.g. inhaling them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Inhalants are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Inhalants includes glues, shoe polish, household cleaners, room deodorizers and nail polish removers.
  • Iris dysplasia with ocular hypertelorism, psychomotor retardation and sensorineural deafness: A rare syndrome characterized by wide-set eyes, psychomotor retardation, deafness and an eye abnormality.
  • Jankovic-Rivera syndrome: A rare inherited syndrome characterized by involuntary muscle jerking and progressive muscle wasting in the hands and feet.
  • Jerky movements: A condition which is associated with unintentional jerky movements
  • Jeune-Tommasi syndrome: A rare genetic disorder characterized by ataxia, deafness and heart problems.
  • Joubert Syndrome 1: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 1 is linked to a defect on chromosome 9q34.3.
  • Joubert Syndrome 10: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 10 is linked to a defect on chromosome Xp22.3.
  • Joubert Syndrome 2: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 2 is linked to a defect on chromosome 11p12-q13.3.
  • Joubert Syndrome 3: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 3 is linked to a defect on chromosome 6q23.3.
  • Joubert Syndrome 4: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 4 is linked to a defect on chromosome 2q13.
  • Joubert Syndrome 5: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 5 is linked to a defect on chromosome 12q21.3.
  • Joubert Syndrome 6: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 6 is linked to a defect on chromosome 8q21.13-q22.1.
  • Joubert Syndrome 7: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 7 is linked to a defect on chromosome 16q12.2.
  • Joubert Syndrome 8: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 8 is linked to a defect on chromosome 3q11.2.
  • Joubert Syndrome 9: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 9 is linked to a defect on chromosome 4p15.3.
  • Juvenile Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease which results from autoimmune dysfunction. Juvenile myasthenia gravis also has autoimmune origins and tends to develop during childhood. Symptoms tend to become worse during the day with activity and improve after rest or after sleeping. The severity of symptoms may vary.
  • Juvenile myoclonic epilepsy: A form of epilepsy that occurs in teenagers and involves sudden muscle jerking and seizures which is especially common on awakening.
  • Juvenile primary lateral sclerosis: A very rare genetic disorder characterized by increasing weakness and stiffness of the muscles in the arms, legs and face due to damage to nerve cells that control motor movement.
  • Juvenile-onset dystonia: A rare form of progressive dystonia that starts early in life - first or second decade. Dystonia is prolonged involuntary muscle spasms or contractions. Various other physical abnormalities are also present and severe hearing loss usually occurs by the middle of the first decade. In the two reported cases, death occurred early in the third decade.
  • Kennedy Syndrome: A rare eye disorder involving the association of optic atrophy (loss of optic nerves) and scotoma (blind spot in vision) in one eye and papilledema (swelling of the optic disc) in the other. It is often associated with a tumor in the optic nerve or frontal lobe of the brain. Various other symptoms may also be associated with the condition depending on the cause.
  • Kuf Disease:
  • Lethal arthrogryposis with anterior horn cell disease (LAAHD): A lethal disorder characterized by arthrogryposis and loss of anterior horn motor neurons which results in a lack of fetal movement.
  • Leukodystrophy with oligodontia: A very rare syndrome characterized mainly by missing teeth and progressive ataxia.
  • Levine-Critchley syndrome: A very rare inherited disorder mainly involving progressive muscle weakness and wasting, abnormal limb movement, progressive cognitive loss and red blood cell abnormalities.
  • Limb dystonia: A nerve disorder which affects muscles. It causes prolonged muscle spasms (contractions) which results in repeated twisting motions or abnormal limb postures.
  • Limb-Girdle muscular dystrophy type 2A: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the Calpain-3 gene.
  • Limb-girdle Muscular Dystrophy: A condition which is characterized by a slowly progressive muscular dystrophy
  • Limb-girdle Muscular Dystropy type 1B:
  • Limb-girdle muscular dystrophy type 1A: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the myotilin gene.
  • Limb-girdle muscular dystrophy type 1B: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the Lamin A/C gene.
  • Limb-girdle muscular dystrophy type 1C: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the Caveolin-3 gene.
  • Limb-girdle muscular dystrophy type 1D: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of chromosome 6. Males are more severely affected than females in this form of the disease.
  • Limb-girdle muscular dystrophy type 1E: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of chromosome 7. The heart is also affected in this condition.
  • Limb-girdle muscular dystrophy type 2B: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by deficiency of the dysferlin protein. There is variation in the degree of muscle involvement and the rate of progression
  • Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the gamma-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
  • Limb-girdle muscular dystrophy type 2D: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the alpha-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
  • Limb-girdle muscular dystrophy type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
  • Limb-girdle muscular dystrophy type 2F: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the delta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
  • Limb-girdle muscular dystrophy type 2G: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the telethonin protein.
  • Limb-girdle muscular dystrophy type 2H: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the TRIM32 protein.
  • Limb-girdle muscular dystrophy type 2I: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the FKRP (fukutin-related protein) gene.
  • Limp in children: Limp is defined as an uneven, jerky, or laborious gait, usually caused by pain, weakness, or deformity. It is a common complaint in childhood, accounting for 4 per 1000 visits in one paediatric emergency department
  • Lissencephaly type III -- familial foetal akinesia sequence: A rare brain malformation where the surface of the brain is smoother than normal. Fetal akinesia sequence is also present and is characterized by the absence of fetal movement and degeneration of the brain and spinal cord.
  • Locked-in Syndrome: A rare neuromuscular disorder involving total paralysis of voluntary muscles except for the eye muscles.
  • Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
  • Lower motor neuron weakness: Muscle weakness caused by neurological problems.
  • Lundberg I: A rare inherited disorder characterized by damage to the eye and a reduced ability to control movements as well as foot problems.
  • Luteinizing hormone releasing hormone, deficiency of, with ataxia: A very rare syndrome characterized mainly by insufficient sex hormone production and impaired balance and coordination due to nervous system dysfunction.
  • Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
  • Macrocephaly -- short stature -- paraplegia: A rare syndrome characterized by a large head, short stature and spastic paraplegia.
  • Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations: A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems.
  • Macrogyria, pseudobulbar palsy and mental retardation: A very rare syndrome characterized mainly by abnormal brain development which results in mild mental retardation, epilepsy, developmental delay and pseudobulbar palsy which affects speech, chewing and swallowing functions.
  • Magnetic gait: Feet seem attached to floor as if by a magnet. In magnetic gait, each step is initiated in a "wresting" motion carrying feet upward and forward. Magnetic gait can be visualized in terms of a powerful magnet being forcefully pulled from a steel plate.
  • Marburg multiple sclerosis: Malignant Multiple Sclerosis, is a particularly aggressive form of the disease. Thankfully very rare, this highly aggressive form is defined by its swift and relentless decline to significant disability or even death, often within a few weeks or months after the onset of the initial attack. It is characterized by widespread and progressive cerebral white matter destruction or by severe pathological involvement of clinically strategic regions such as brainstem, resulting in bulbar paralysis.
  • Marie type ataxia: An inherited brain disorder that affects muscle coordination.
  • Marinesco-Sjogren I: A rare condition characterized by cerebellar ataxia, speaking difficulty, mental retardation, short stature and tooth, hair and nail abnormalities.
  • Marinesco-Sjogren syndrome: A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly.
  • Marinesco-Sjogren-like syndrome (MSLS): A very rare disorder characterized by cataracts (during childhood), mental retardation, muscle weakness and brain degeneration. The disorder is very similar to another syndrome called Marinesco-Sjogren syndrome.
  • Marsden syndrome: A rare disorder characterized by loss of vision and dystonia. It is believed to be a variant of Leber's atrophy associated with dystonia.
  • May-White syndrome: A rare inherited disorder characterized by involuntary muscle twitching, balance and coordination problems (cerebellar ataxia) and hearing loss.
  • Mc Leod neuroacanthocytosis syndrome: A rare syndrome characterized by neuromuscular, blood and central nervous system symptoms. The disease is slowly progressive.
  • Mediterranean myoclonic epilepsy: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
  • Megaloblastic Anemia 1: A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megaloblasts).
  • Megaloblastic anemia: A rare blood disorder where insufficient vitamin B12 absorption results in reduced production of red blood cells and increased levels of abnormal, enlarged red blood cells (megaloblasts). Vitamin B12 insufficiency can result from absorption problems or lack of dietary intake of the vitamin or folic acid.
  • Melkersson-Rosenthal Syndrome: A rare inherited neurological disorder involving episodes of facial paralysis and swelling.
  • Mental retardation -- hypocupremia -- hypobetalipoproteinemia: A very rare syndrome characterized mainly by mental retardation, low blood copper levels and low betalipoprotein levels in the blood.
  • Mental retardation -- skeletal dysplasia -- abducens palsy: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and weakness of an eye muscle.
  • Mental retardation athetosis microphthalmia: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Mental retardation, X-linked -- choreoathesis -- abnormal behavior: A rare X-linked disorder characterized by mental retardation, abnormal behavior and a movement disorder. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Mental retardation, X-linked -- corpus callosum agenesis -- spastic quadriparesis: A rare disorder characterized by mental retardation, abnormal development of a part of the brain called the corpus callosum and spastic quadriparesis. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Mental retardation, X-linked -- dystonia -- dysarthria: A very rare X-linked disorder characterized by the association of mental retardation with dystonia (movement disorder) and dysarthria (speech disorder).
  • Methylmalonic aciduria -- microcephaly -- cataract: A very rare syndrome characterized mainly by excess methylmalonic acid in the urine, small head and cataracts.
  • Microcephaly -- mental retardation -- spasticity -- epilepsy: A very rare disorder characterized by an abnormally small head, mental retardation, spasticity and epilepsy.
  • Microcephaly -- pontocerebellar hypoplasia -- dyskinesia: A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The brain progressively degenerates.
  • Microcephaly with spastic quadriplegia: A very rare disorder characterized by an abnormally small head and quadriplegia.
  • Microlissencephaly -- micromelia: A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death.
  • Mitochondrial Parkinson's disease: A form of Parkinson's disease that seems to be linked to mitochondrial defects - mitochondria are the energy-producing components of body cells. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
  • Mixed Cerebral Palsy: Cerebral palsy is movement disorder originating from some sort of damage to the brain. There are a few different types of cerebral palsy (e.g. spastic, athetoid, ataxic) and a combination of two or more types is known as mixed cerebral palsy. The symptoms of mixed cerebral palsy usually involves spasticity and athetoid movements but other variations such as ataxia can occur.
  • Mobius syndrome: A rare genetic condition characterized by defective cranial nerves (6th and 7th), deafness, facial nerve paralysis and other abnormalities.
  • Moebius Syndrome: Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.

 

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