This section presents information about the death rate statistics
for the various types of Muscle conditions.
Disease | Death Rate Estimate | US deaths estimate | Statistic Used for Calculation |
| Muscle pain |
N/A |
N/A |
No information
|
| Muscle weakness |
N/A |
N/A |
No information
|
| Convulsions |
N/A |
N/A |
No information
|
| Dermatomyositis |
N/A |
N/A |
13,462 people with polymyositis/dermatomyositis in the USA 1996 1
|
| Febrile Seizures |
N/A |
N/A |
No information
|
| Infantile Refsum Disease |
N/A |
N/A |
No information
|
| Myasthenia Gravis |
N/A |
N/A |
about 5 per 100,000 to 14 per 100,000 (NWHIC)
|
| Myotonic Dystrophy |
N/A |
N/A |
Type I myotonic dystrophy accounts for 98% of all cases of myotonic dystrophy, Genetics Home Reference website
|
| Open Wound |
N/A |
N/A |
No information
|
| Progressive Spinobulbar muscular atrophy |
N/A |
N/A |
No information
|
| Refsum Disease |
N/A |
N/A |
No information
|
| Sarcoma |
N/A |
N/A |
No information
|
| Soft Tissue Sarcoma |
unavailable |
|
No information
|
| Myosarcoma |
N/A |
N/A |
No information
|
| Rhabdomyosarcoma, embryonal |
N/A |
N/A |
No information
|
| Rhabdomyosarcoma, alveolar |
N/A |
N/A |
No information
|
| Leiomyosarcoma |
N/A |
N/A |
No information
|
| Cardiomyopathy -- hypotonia -- lactic acidosis |
N/A |
N/A |
No information
|
| Cardiomyopathy -- renal anomalies |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 2 |
N/A |
N/A |
No information
|
| Spastic Paraplegia 42, Autosomal Dominant |
N/A |
N/A |
No information
|
| Facioplegic migraine |
N/A |
N/A |
No information
|
| Muscle contraction headache |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 6 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 18 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 27 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 19 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 28 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 29 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal dominant |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 1 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 2 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 3 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 4 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 6 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 7 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 8 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 9 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 10 |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1B |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1C |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1D |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1E |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1G |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1H |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1I |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1J |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1K |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1L |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1M |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1P |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1Q |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1S |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1T |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1U |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1W |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated with conduction defect |
N/A |
N/A |
No information
|
| Cardiomyopathy, Alcoholic |
N/A |
N/A |
No information
|
| Cardiomyopathy diabetes deafness |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 10 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 3 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 3A |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 3B |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 4 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 5 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 6 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 7 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 8 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 9 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 10 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 1 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 4 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 16 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 25 |
N/A |
N/A |
No information
|
| Grand mal seizures |
N/A |
N/A |
No information
|
| Grand mal epilepsy |
N/A |
N/A |
No information
|
| Spastic paraplegia 30, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 32, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 33, autosomal dominant |
N/A |
N/A |
No information
|
| Neuropathy sensory spastic paraplegia |
N/A |
N/A |
No information
|
| Spastic paraplegia 3, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 2 |
N/A |
N/A |
No information
|
| Spastic paraplegia 4, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 3 |
N/A |
N/A |
No information
|
| Spastic paraplegia 8, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 9, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2AII |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1A |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1B |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2B |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1C |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4A |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2C |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1D |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2D |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1E |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4C |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2E |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1F |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2G |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4E |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4F |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2H |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4G |
N/A |
N/A |
No information
|
| Spastic paraplegia type 5A, recessive |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2I |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4H |
N/A |
N/A |
No information
|
| Spastic paraplegia type 5B, recessive |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2J |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, type 2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2A |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, type 4 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, demyelinating, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth, demyelinating, autosomal recessive |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, type 1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2L |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 11 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 20 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 12 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 21 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 1 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 13 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 22 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 14 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 23 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 3 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 15 |
N/A |
N/A |
No information
|
| Spastic paraplegia 24 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 5 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 17 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 26 |
N/A |
N/A |
No information
|
| Epilepsy, Juvenile Myoclonic, Susceptibility to, 1 |
N/A |
N/A |
No information
|
| Epilepsy, Juvenile Myoclonic, Susceptibility to, 2 |
N/A |
N/A |
No information
|
| Epilepsy, Juvenile Myoclonic, Susceptibility to, 3 |
N/A |
N/A |
No information
|
| Epilepsy, Juvenile Myoclonic, Susceptibility to, 4 |
N/A |
N/A |
No information
|
| Epilepsy, Juvenile Myoclonic, Susceptibility to, 5 |
N/A |
N/A |
No information
|
| Epilepsy, Juvenile Myoclonic, Susceptibility to, 6 |
N/A |
N/A |
No information
|
| Epilepsy, Juvenile Myoclonic, Susceptibility to, 7 |
N/A |
N/A |
No information
|
| Epilepsy, Juvenile Myoclonic, Susceptibility to, 8 |
N/A |
N/A |
No information
|
| Kennedy Syndrome |
N/A |
N/A |
No information
|
| Spinal Muscular Atrophy |
N/A |
N/A |
1 per 6,000 - 10,000 people suffer from spinal muscular atrophy, Genetics Home Reference website
|
| Spinal Muscular Atrophy type I |
N/A |
N/A |
No information
|
| Spinal Muscular Atrophy type II |
N/A |
N/A |
No information
|
| Spinal Muscular Atrophy type III |
N/A |
N/A |
No information
|
| Fasciculations |
N/A |
N/A |
No information
|
| Adult SMA |
N/A |
N/A |
No information
|
| Muscular Dystrophy |
N/A |
N/A |
No information
|
| Duchenne Muscular Dystrophy |
N/A |
N/A |
No information
|
| Becker Muscular Dystrophy |
N/A |
N/A |
No information
|
| Limb-girdle Muscular Dystrophy |
N/A |
N/A |
No information
|
| Muscular dystrophy, Duchenne and Becker type |
N/A |
N/A |
1 per 3,500 - 5,000 male newborns suffer from muscular dystrophy, Duchenne and Becker types, Genetics Home Reference website
|
| Adult progressive spinal muscular atrophy, Aran Duchenne type |
N/A |
N/A |
No information
|
| Becker's muscular dystrophy (BMD) |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2K |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal dominant, type 1F |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal dominant, type 1G |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle -- mental retardation |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1B |
N/A |
N/A |
No information
|
| Limb-Girdle muscular dystrophy type 2A |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1A |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2B |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1C |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2C |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1D |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2D |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1E |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 2 |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2E |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2F |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 4 |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2G |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 5 |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2H |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2I |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb girdle |
N/A |
N/A |
No information
|
| Myasthenia, familial limb-girdle |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal dominant |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, Machado-Joseph type I |
N/A |
N/A |
No information
|
| Myopathy, limb-girdle, with bone fragility |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle type 2M |
N/A |
N/A |
No information
|
| Muscular dystrophy limb girdle type 2A, Erb type |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2H |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2B |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb girdle, autosomal recessive, type 2A |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2E |
N/A |
N/A |
No information
|
| Myasthenia, Limb-Girdle, with Tubular Aggregates |
N/A |
N/A |
No information
|
| Muscular Dystrophy, Limb-Girdle, Type 3 |
N/A |
N/A |
No information
|
| Limb-girdle Muscular Dystropy type 1B |
N/A |
N/A |
No information
|
| Parkinson's disease dementia, familial |
N/A |
N/A |
No information
|
| Autosomal recessive limb-girdle muscular dystrophy, type 2G |
N/A |
N/A |
No information
|
| Muscular dystrophy limb-girdle (generic term) |
N/A |
N/A |
No information
|
| Primary Parkinsonism |
N/A |
N/A |
No information
|
| Genetic Parkinson disease |
N/A |
N/A |
No information
|
| Parkinson disease, genetic types |
N/A |
N/A |
No information
|
| Parkinson disease 4, autosomal dominant, Lewy body |
N/A |
N/A |
No information
|
| Parkinson disease 7, autosomal recessive, early-onset |
N/A |
N/A |
No information
|
| Dystonia musculorum deformans type 1 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, X-linked, 2 |
N/A |
N/A |
No information
|
| Spastic paraplegia 2, X-linked |
N/A |
N/A |
No information
|
| Dystonia musculorum deformans type 2 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, X-linked, 3 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 7 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 6 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 5 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 4 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 3 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 2 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked, 1 |
N/A |
N/A |
No information
|
| Ophtalmoplegia myalgia tubular aggregates |
N/A |
N/A |
No information
|
| Opthalmoplegia progressive external scoliosis |
N/A |
N/A |
No information
|
| Proximal spinal muscular atrophy, type IV |
N/A |
N/A |
No information
|
| Spinal muscular atrophy, Adult form |
N/A |
N/A |
No information
|
| Parkinson disease 7, autosomal recessive early-onset (PARK7) |
N/A |
N/A |
No information
|
| Parkinson disease 4, autosomal dominant Lewy body (PARK4) |
N/A |
N/A |
No information
|
| Parkinson disease 11 (PARK11) |
N/A |
N/A |
No information
|
| Parkinson disease 13 (PARK13) |
N/A |
N/A |
No information
|
| Parkinson disease 5 (PARK5) |
N/A |
N/A |
No information
|
| Parkinson disease 9 (PARK9) |
N/A |
N/A |
No information
|
| Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques |
N/A |
N/A |
No information
|
| Alzheimer disease, familial, 3, with spastic paraparesis and apraxia |
N/A |
N/A |
No information
|
| Idiopathic Parkinson's disease |
N/A |
N/A |
No information
|
| Parkinson disease, familial, type 1 (PARK1) |
N/A |
N/A |
No information
|
| Parkinson disease 6, autosomal recessive early-onset (PARK6) |
N/A |
N/A |
No information
|
| Parkinson disease 2, autosomal recessive juvenile (PARK2) |
N/A |
N/A |
No information
|
| Parkinson disease 10 (PARK10) |
N/A |
N/A |
No information
|
| Parkinson disease 12 (PARK12) |
N/A |
N/A |
No information
|
| Parkinson disease 8 (PARK8) |
N/A |
N/A |
No information
|
| Parkinson disease 3, autosomal dominant Lewy body (PARK3) |
N/A |
N/A |
No information
|
| Mitochondrial Parkinson's disease |
N/A |
N/A |
No information
|
| Bell's Palsy |
N/A |
N/A |
No information
|
| Parkinson's Disease |
approx 1 in 272 or 0.37% or 1 million people in USA |
1 million people (unreliable estimate) |
1 million people (unreliable estimate)
|
| Paralysis |
N/A |
N/A |
9 per 1000 - NHIS95 (paralysis of extremeties complete/partial)
|
| Paraplegia |
N/A |
N/A |
No information
|
| Separated Rectus Abdominal Muscles |
N/A |
N/A |
No information
|
| Cardiomyopathy |
approx 1 in 5,439 or 0.02% or 50,000 people in USA |
50,000 Americans (NHLBI) |
50,000 Americans (NHLBI)
|
| Dilated cardiomyopathy |
N/A |
N/A |
No information
|
| Hypertrophic cardiomyopathy |
N/A |
N/A |
0.2 percent of the U.S. population
|
| Restrictive cardiomyopathy |
N/A |
N/A |
rare
|
| Opththalmoplegia |
N/A |
N/A |
No information
|
| Nemaline myopathy 1 |
N/A |
N/A |
No information
|
| Nemaline myopathy 2 |
N/A |
N/A |
No information
|
| Nemaline myopathy 3 |
N/A |
N/A |
No information
|
| Nemaline myopathy 4 |
N/A |
N/A |
No information
|
| Nemaline myopathy 5 |
N/A |
N/A |
No information
|
| Nemaline myopathy 6 |
N/A |
N/A |
No information
|
| Nemaline myopathy 7 |
N/A |
N/A |
No information
|
| Multiple Sclerosis, Susceptibility To, 1 |
N/A |
N/A |
No information
|
| Multiple Sclerosis, Susceptibility To, 2 |
N/A |
N/A |
No information
|
| Multiple Sclerosis, Susceptibility To, 3 |
N/A |
N/A |
No information
|
| Multiple Sclerosis, Susceptibility To, 4 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy 5 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy 4 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy 3 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy 2 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy 1 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Syndrome |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, 11 |
N/A |
N/A |
No information
|
| Convulsions, benign familial infantile, 3 |
N/A |
N/A |
No information
|
| Convulsions, benign familial infantile, 4 |
N/A |
N/A |
No information
|
| Fromont Anomaly |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 12 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 11 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 5 |
N/A |
N/A |
No information
|
| Autosomal recessive spastic paraplegia, type 11 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease (generic term) |
N/A |
N/A |
No information
|
| Primary dystonia |
N/A |
N/A |
No information
|
| Juvenile Myasthenia Gravis |
N/A |
N/A |
No information
|
| Congenital Myasthenia Gravis |
N/A |
N/A |
No information
|
| Transient Neonatal Myasthenia Gravis |
N/A |
N/A |
No information
|
| Generalized Myasthenia Gravis |
N/A |
N/A |
No information
|
| Ocular Myasthenia Gravis |
N/A |
N/A |
No information
|
| Myasthenia, Familial Infantile, 1 |
N/A |
N/A |
No information
|
| Myasthenia Gravis with Thymus Hyperplasia |
N/A |
N/A |
No information
|
| Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors |
N/A |
N/A |
No information
|
| Primary restless leg syndrome |
N/A |
N/A |
No information
|
| Secondary restless leg syndrome |
N/A |
N/A |
No information
|
| Neurological chronic fatigue syndrome |
N/A |
N/A |
No information
|
| Post-ADD chronic fatigue syndrome |
N/A |
N/A |
No information
|
| Post-viral CFS |
N/A |
N/A |
No information
|
| Infectious CFS |
N/A |
N/A |
No information
|
| Musculoskeletal chronic fatigue syndrome |
N/A |
N/A |
No information
|
| CFS subtype 7 (pain, infectious, musculoskeletal, sleep, neurological, gastrointestinal, neurocognitive, anxiety/depression) |
N/A |
N/A |
No information
|
| CFS subtype 6 (postexertional) |
N/A |
N/A |
No information
|
| CFS subtype 5 (musculoskeletal, gastrointestinal) |
N/A |
N/A |
No information
|
| CFS subtype 4 (cognitive, musculoskeletal, sleep, anxiety/depression) |
N/A |
N/A |
No information
|
| CFS subtype 3 (mild) |
N/A |
N/A |
No information
|
| CFS subtype 2 ( musculoskeletal, pain, anxiety/depression) |
N/A |
N/A |
No information
|
| CFS subtype 1 (cognitive, musculoskeletal, sleep, anxiety/depression) |
N/A |
N/A |
No information
|
| Deposition diseases related fibromyalgia |
N/A |
N/A |
No information
|
| Tension myositis related fibromyalgia |
N/A |
N/A |
No information
|
| Sleep disturbance related fibromyalgia |
N/A |
N/A |
No information
|
| Major depressive disorder related fibromyalgia |
N/A |
N/A |
No information
|
| SLE related fibromyalgia |
N/A |
N/A |
No information
|
| Rheumatoid arthritis related fibromyalgia |
N/A |
N/A |
No information
|
| Epstein Barr virus related fibromyalgia |
N/A |
N/A |
No information
|
| Secondary Fibromyalgia |
N/A |
N/A |
No information
|
| Primary Fibromyalgia |
N/A |
N/A |
No information
|
| General somatic pain |
N/A |
N/A |
No information
|
| Muscle spasm |
N/A |
N/A |
No information
|
| Distal muscle weakness |
N/A |
N/A |
No information
|
| Contralateral athetosis |
N/A |
N/A |
No information
|
| Mental retardation -- short stature -- hand contractures -- genital anomalies |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis |
N/A |
N/A |
4-8 per 1000,000 people suffer from amyotrophic lateral sclerosis worldwide, Genetics Home Reference website
|
| Neonatal myasthenia |
N/A |
N/A |
No information
|
| Fibromyalgia |
N/A |
N/A |
3.7 million Americans (NIAMS)
|
| Tremor |
N/A |
N/A |
No information
|
| Essential tremor |
N/A |
N/A |
No information
|
| Orthostatic tremor |
N/A |
N/A |
No information
|
| Tropical Spastic Paraparesis |
N/A |
N/A |
No information
|
| Benign Multiple Sclerosis |
N/A |
N/A |
No information
|
| Relapsing/remitting multiple sclerosis |
N/A |
N/A |
No information
|
| Secondary chronic progressive multiple sclerosis |
N/A |
N/A |
No information
|
| Primary progressive multiple sclerosis |
N/A |
N/A |
No information
|
| Marburg multiple sclerosis |
N/A |
N/A |
No information
|
| Optic-spinal form of multiple sclerosis |
N/A |
N/A |
No information
|
| Hip muscle strain |
N/A |
N/A |
No information
|
| Lower back muscle strain |
N/A |
N/A |
No information
|
| Thigh muscle strain |
N/A |
N/A |
No information
|
| Eye muscle strain |
N/A |
N/A |
No information
|
| Upper back muscle strain |
N/A |
N/A |
No information
|
| Forearm muscle strain |
N/A |
N/A |
No information
|
| Gluteal muscle strain |
N/A |
N/A |
No information
|
| Hip Flexor strain |
N/A |
N/A |
No information
|
| Groin muscle strain |
N/A |
N/A |
No information
|
| Strain |
N/A |
N/A |
No information
|
| Guillain-Barre Syndrome |
N/A |
N/A |
about 1 in 100,000 (NWHIC)
|
| Balo disease |
N/A |
N/A |
No information
|
| Chronic Fatigue Syndrome |
N/A |
N/A |
500,000 Americans (CDC/NIAID)
|
| Post-polio syndrome |
N/A |
N/A |
No information
|
| Spastic paraparesis |
N/A |
N/A |
No information
|
| Multiple Sclerosis |
N/A |
N/A |
1-in-700 (NIAID)
|
| Myoclonus |
N/A |
N/A |
No information
|
| Chorea |
N/A |
N/A |
No information
|
| Sydenham chorea |
N/A |
N/A |
No information
|
| Batten Disease |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 3, Juvenile |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 4 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 6, late infantile |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 8, northern epilepsy variant |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 5 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 7 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 8 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 9 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 10 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 1, infantile |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 2, late infantile type |
N/A |
N/A |
No information
|
| Santavuori Disease |
N/A |
N/A |
No information
|
| Bielschowsky disease |
N/A |
N/A |
No information
|
| Primary Lateral Sclerosis |
N/A |
N/A |
rare
|
| Progressive Supranuclear Palsy |
N/A |
N/A |
rare
|
| Restless Legs Syndrome |
N/A |
N/A |
No information
|
| Periodic limb movements in sleep |
N/A |
N/A |
No information
|
| Writer's cramp |
N/A |
N/A |
No information
|
| Repetitive Strain Injury |
N/A |
N/A |
No information
|
| Achalasia |
N/A |
N/A |
No information
|
| Repetitive Motion Disorders |
N/A |
N/A |
No information
|
| Multifocal motor neuropathy |
N/A |
N/A |
No information
|
| Myopathy |
N/A |
N/A |
No information
|
| Phosphoglycerate Kinase Deficiency |
N/A |
N/A |
No information
|
| Carnitine Deficiency Syndromes |
N/A |
N/A |
No information
|
| Carnitine Palmitoyl Transferase II Deficiency |
N/A |
N/A |
No information
|
| Type V Glycogen Storage Disease |
N/A |
N/A |
No information
|
| McArdle disease |
N/A |
N/A |
No information
|
| Forbes disease |
N/A |
N/A |
No information
|
| Type IV Glycogen Storage Disease |
N/A |
N/A |
No information
|
| Type VII Glycogen Storage Disease |
N/A |
N/A |
No information
|
| Type III Glycogen Storage Disease |
N/A |
N/A |
No information
|
| Muscular phosphorylase kinase deficiency |
N/A |
N/A |
No information
|
| Carnitine Palmitoyl Transferase I Deficiency |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 4 |
N/A |
N/A |
No information
|
| Spastic paraplegia 6, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 5 |
N/A |
N/A |
No information
|
| Sixth nerve palsy |
N/A |
N/A |
No information
|
| Paresis |
N/A |
N/A |
No information
|
| Abdominal muscle strain |
N/A |
N/A |
No information
|
| Bicep muscle strain |
N/A |
N/A |
No information
|
| Leg muscle strain |
N/A |
N/A |
No information
|
| Atonic seizure |
N/A |
N/A |
No information
|
| Focal motor seizure |
N/A |
N/A |
No information
|
| Myoclonic seizures |
N/A |
N/A |
No information
|
| Partial motor seizure |
N/A |
N/A |
No information
|
| Diaphragmatic paralysis |
N/A |
N/A |
No information
|
| Hypnic jerk |
N/A |
N/A |
No information
|
| Calf muscle strain |
N/A |
N/A |
No information
|
| Hand muscle strain |
N/A |
N/A |
No information
|
| Neck muscle strain |
N/A |
N/A |
No information
|
| Muscle strain |
N/A |
N/A |
No information
|
| Clonic seizures |
N/A |
N/A |
No information
|
| Tonic-Clonic seizure |
N/A |
N/A |
No information
|
| Tonic seizure |
N/A |
N/A |
No information
|
| Tricep muscle strain |
N/A |
N/A |
No information
|
| Shoulder muscle strain |
N/A |
N/A |
No information
|
| Respiratory paralysis |
N/A |
N/A |
No information
|
| Upper motor neuron lesions like hyperactive DTRs in the legs |
N/A |
N/A |
No information
|
| Muscle weakness and atrophy as in case of diabetes mellitus |
N/A |
N/A |
No information
|
| Carpal spasm |
N/A |
N/A |
No information
|
| Inability to relax a muscle after its contraction |
N/A |
N/A |
No information
|
| Chronic fatigue syndrome- like myalgia |
N/A |
N/A |
No information
|
| Extraocular muscle palsies |
N/A |
N/A |
No information
|
| Medication induced muscle weakness |
N/A |
N/A |
No information
|
| Choreoathetosis |
N/A |
N/A |
No information
|
| Restless leg syndrome |
N/A |
N/A |
No information
|
| Oculomotor palsy |
N/A |
N/A |
No information
|
| Choreiform movements as seen in rheumatic fever |
N/A |
N/A |
No information
|
| Rheumatic fever-like chorea |
N/A |
N/A |
No information
|
| Cogwheel rigidity |
N/A |
N/A |
No information
|
| Hereditary Congenital Facial Paresis II |
N/A |
N/A |
No information
|
| Hereditary Congenital Facial Paresis 2 |
N/A |
N/A |
No information
|
| Hereditary Congenital Facial Paresis I |
N/A |
N/A |
No information
|
| Hereditary Congenital Facial Paresis |
N/A |
N/A |
No information
|
| Absence of gluteal muscle |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type 1A |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type VI |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta Type I |
N/A |
N/A |
3-4 per 100,000 people are affected by osteogenesis imperfecta type I worldwide, Genetics Home Reference website
|
| Charcot-Marie-Tooth disease -- deafness |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth Disorder |
N/A |
N/A |
150,000 people are affected by Charcot-Marie-Tooth disease in the US, Genetics Home Reference website
|
| Charcot disease |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2K |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease with ptosis and parkinsonism |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth type 1 aplasia cutis congenital |
N/A |
N/A |
No information
|
| Torsion dystonia 7 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2B1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2B2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4B1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4B2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2AI |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, dominant intermediate 1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, dominant intermediate 2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, dominant intermediate 3 |
N/A |
N/A |
No information
|
| Spastic paraplegia type 1, X-linked |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease deafness recessive type |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2F |
N/A |
N/A |
No information
|
| Autosomal Dominant Charcot-Marie-Tooth with hearing loss |
N/A |
N/A |
No information
|
| Spastic Paraplegia 18, Autosomal Recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 11, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 23 |
N/A |
N/A |
No information
|
| Spastic paraplegia 17 |
N/A |
N/A |
No information
|
| Spastic paraplegia 20, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 14, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 15, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 25, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 26, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 16, X-linked |
N/A |
N/A |
No information
|
| Complex 5 mitochondrial respiratory chain deficiency |
N/A |
N/A |
No information
|
| Spastic paraplegia 10, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 12, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 13, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 19, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 29, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 7, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 39, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 31, autosomal dominant |
N/A |
N/A |
No information
|
| Complex 4 mitochondrial respiratory chain deficiency, benign infantile myopathy |
N/A |
N/A |
No information
|
| Complex 4 mitochondrial respiratory chain deficiency, fatal infant myopathy type |
N/A |
N/A |
No information
|
| Complex 4 mitochondrial respiratory chain deficiency |
N/A |
N/A |
No information
|
| Complex 1 mitochondrial respiratory chain deficiency |
N/A |
N/A |
No information
|
| Complex 2 mitochondrial respiratory chain deficiency |
N/A |
N/A |
No information
|
| Parkinsonism, early onset with mental retardation |
N/A |
N/A |
No information
|
| Berardinelli-Seip congenital lipodystrophy |
N/A |
N/A |
No information
|
| Berardinelli-Seip congenital lipodystrophy, type 1 |
N/A |
N/A |
No information
|
| Berardinelli-Seip congenital lipodystrophy, type 2 |
N/A |
N/A |
No information
|
| Mental retardation progressive spasticity, X-linked |
N/A |
N/A |
No information
|
| Spastic disorders |
N/A |
N/A |
No information
|
| Spasticity |
N/A |
N/A |
No information
|
| Cerebral Palsy |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 7 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 8 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, 9 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 2, juvenile |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 4, juvenile |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, type 6 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 1 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 2 |
N/A |
N/A |
familial amyotrophic lateral sclerosis type 2 has been reported in only a few families, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis, familial type 3 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 4 |
N/A |
N/A |
familial amyotrophic lateral sclerosis type 4 has been reported in only a few families, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis, familial type 5 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 6 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 7 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 8 |
N/A |
N/A |
familial amyotrophic lateral sclerosis type 4 has been reported in only a few families, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis, familial |
N/A |
N/A |
10% of all cases of amyotrophic lateral sclerosis are familial, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis type 1 |
N/A |
N/A |
3% of sporadic cases of amyotrophic lateral sclerosis are type 1, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis-parkinsonism/dementia complex 2 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis-parkinsonism-dementia complex |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 3 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 5 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 6 |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta -- congenital joint contractures |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type 3 |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta type IIII |
N/A |
N/A |
1-2 per 100,000 people are affected by osteogenesis imperfecta type IIII worldwide, Genetics Home Reference website
|
| Tick paralysis |
N/A |
N/A |
No information
|
| Catalepsy |
N/A |
N/A |
No information
|
| Heat cramps |
N/A |
N/A |
No information
|
| Mild cramps |
N/A |
N/A |
No information
|
| Severe muscle pain |
N/A |
N/A |
No information
|
| Temporary paralysis |
N/A |
N/A |
No information
|
| Occasional tremors |
N/A |
N/A |
No information
|
| Glycogen storage disease type 2B -- formerly |
N/A |
N/A |
No information
|
| Pseudoglycogenosis II |
N/A |
N/A |
No information
|
| Glycogen Storage Disease IIb -- formerly |
N/A |
N/A |
No information
|
| GSD2B -- formerly |
N/A |
N/A |
No information
|
| GSD IIB -- formerly |
N/A |
N/A |
No information
|
| Glycogen Storage Disease IXb |
N/A |
N/A |
No information
|
| Glycogen Storage Disease IXa1 |
N/A |
N/A |
No information
|
| Glycogen Storage Disease IXc |
N/A |
N/A |
No information
|
| Type II Glycogen Storage Disease |
N/A |
N/A |
No information
|
| Glycogen storage diseases |
N/A |
N/A |
No information
|
| Glycogen storage disease type 2 |
N/A |
N/A |
No information
|
| Glycogen storage disease type 7 |
N/A |
N/A |
No information
|
| Glycogen storage disease type 2B |
N/A |
N/A |
No information
|
| Myoclonus epilepsy partial seizure |
N/A |
N/A |
No information
|
| Infantile parkinsonism |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 3 |
N/A |
N/A |
No information
|
| Congenital Muscular Dystrophy |
N/A |
N/A |
No information
|
| Parkinson disease, juvenile, autosomal recessive |
N/A |
N/A |
No information
|
| Torticollis, familial |
N/A |
N/A |
No information
|
| Spinal bulbar motor neuropathy |
N/A |
N/A |
No information
|
| Erb's dystrophy |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- hypotonia -- facial dysmorphism -- aggressive behavior |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- choreoathesis -- abnormal behavior |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- corpus callosum agenesis -- spastic quadriparesis |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- epilepsy -- progressive joint contractures -- typical face |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- craniofacial dysmorphology -- epilepsy -- ophthalmoplegia -- cerebellar atrophy |
N/A |
N/A |
No information
|
| Proximal spinal muscular atrophy, type 3 |
N/A |
N/A |
No information
|
| Nystagmus, myoclonic |
N/A |
N/A |
No information
|
| Myoclonic progressive familial epilepsy |
N/A |
N/A |
No information
|
| Parkinson disease, familial, Type 1 |
N/A |
N/A |
No information
|
| Parkinson disease 12 |
N/A |
N/A |
No information
|
| Parkinson disease 13 |
N/A |
N/A |
No information
|
| Ocular Muscular Dystrophy |
N/A |
N/A |
No information
|
| Deafness conductive stapedial ear malformation facial palsy |
N/A |
N/A |
No information
|
| Parkinsonism, early-onset -- mental retardation |
N/A |
N/A |
No information
|
| Parkinson disease 3 |
N/A |
N/A |
No information
|
| Parkinson disease 9 |
N/A |
N/A |
No information
|
| Parkinson disease 8 |
N/A |
N/A |
No information
|
| Parkinson disease 6, autosomal recessive, recessive early-onset |
N/A |
N/A |
No information
|
| Pyruvate kinase deficiency, muscle type |
N/A |
N/A |
No information
|
| Parkinson disease 10 |
N/A |
N/A |
No information
|
| Parkinson disease 11 |
N/A |
N/A |
No information
|
| Myopathy, Distal 3 |
N/A |
N/A |
No information
|
| Myopathy, Distal 2 |
N/A |
N/A |
No information
|
| Distal Myopathy 1 |
N/A |
N/A |
No information
|
| Muscle cramps |
N/A |
N/A |
No information
|
| Paralytic ileus |
N/A |
N/A |
No information
|
| Torticollis |
N/A |
N/A |
No information
|
| Spasmodic Torticollis |
N/A |
N/A |
No information
|
| Cramp |
N/A |
N/A |
No information
|
| Myopathy -- growth and mental retardation -- hypospadias |
N/A |
N/A |
No information
|
| Dystonia 6, torsion |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 2 |
N/A |
N/A |
No information
|
| Myopathy -- growth delay -- mental retardation -- hypospadias |
N/A |
N/A |
No information
|
| Alopecia-contractures-dwarfism-mental retardation |
N/A |
N/A |
No information
|
| Poikilodermatomyositis -- mental retardation |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- hypotonia -- recurrent Infections |
N/A |
N/A |
No information
|
| Mental retardation -- hypotonia -- skin hyperpigmentation |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy |
N/A |
N/A |
No information
|
| Ophthalmoplegia, progressive external -- scoliosis |
N/A |
N/A |
No information
|
| Spastic paraplegia epilepsy mental retardation |
N/A |
N/A |
No information
|
| Mental retardation athetosis microphthalmia |
N/A |
N/A |
No information
|
| Mental retardation -- skeletal dysplasia -- abducens palsy |
N/A |
N/A |
No information
|
| Microcephaly with spastic quadriplegia |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- dystonia -- dysarthria |
N/A |
N/A |
No information
|
| Ataxia spastic congenital miosis |
N/A |
N/A |
No information
|
| Athetosis |
N/A |
N/A |
No information
|
| Aural atresia -- multiple congenital anomalies -- mental retardation |
N/A |
N/A |
No information
|
| Macrostomia -- preauricular tags -- external ophthalmoplegia |
N/A |
N/A |
No information
|
| Hypodontia and Dupuytren contracture |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 7 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 9 |
N/A |
N/A |
No information
|
| Lethal arthrogryposis with anterior horn cell disease |
N/A |
N/A |
No information
|
| Fronto-temporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 1 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 2 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 3 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 4 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 5 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 6 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 7 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 8 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 9 |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1Y |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 1Z |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated with conduction defect type 1 |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated with conduction defect type 2 |
N/A |
N/A |
No information
|
| Cardiomyopathy, familial dilated |
N/A |
N/A |
No information
|
| Familial dilated cardiomyopathy |
N/A |
N/A |
No information
|
| Idiopathic facial palsy |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 8 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, X-linked, 5 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia -- dysmorphism |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia with axonal neuropathy, type 2 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, X-linked, type 4 |
N/A |
N/A |
No information
|
| Spinocerebellar Ataxia 9 |
N/A |
N/A |
No information
|
| Friedreich's ataxia |
N/A |
N/A |
No information
|
| Spinocerebellar Ataxia |
N/A |
N/A |
No information
|
| Progressive external ophthalmoplegia |
N/A |
N/A |
No information
|
| Myoclonus epilepsy |
N/A |
N/A |
No information
|
| Alternating Hemiplegia |
N/A |
N/A |
rare
|
| Motor neuron diseases |
N/A |
N/A |
No information
|
| Dystonias |
N/A |
N/A |
No information
|
| Hemifacial Spasm |
N/A |
N/A |
No information
|
| Hereditary Spastic Paraplegia |
N/A |
N/A |
No information
|
| Progressive muscular atrophy |
N/A |
N/A |
No information
|
| Opsoclonus Myoclonus |
N/A |
N/A |
No information
|
| Quadriplegia |
N/A |
N/A |
No information
|
| Torsion dystonia, X-linked |
N/A |
N/A |
No information
|
| Neurosyphilis -- general paresis |
N/A |
N/A |
No information
|
| Hereditary spastic paralysis, infantile onset ascending |
N/A |
N/A |
No information
|
| Friedreich ataxia |
N/A |
N/A |
estimated 1 per 40,000 people are affected by Friedreich ataxia, Genetics Home Reference website
|
| Spinal muscular atrophy, type 3 |
N/A |
N/A |
No information
|
| Spinal muscular atrophy with respiratory distress 1 |
N/A |
N/A |
No information
|
| Spinal muscular atrophy type 2 |
N/A |
N/A |
No information
|
| Spinal muscular atrophy, type I, with congenital bone fractures |
N/A |
N/A |
No information
|
| Spinal muscular atrophy, Ryukyuan type |
N/A |
N/A |
No information
|
| Athetoid Cerebral Palsy |
N/A |
N/A |
No information
|
| Mixed Cerebral Palsy |
N/A |
N/A |
No information
|
| Cerebral Palsy, Ataxic, Autosomal Recessive |
N/A |
N/A |
No information
|
| Cerebral Palsy, Spastic Quadriplegic, 1 |
N/A |
N/A |
No information
|
| Cerebral Palsy, Spastic Quadriplegic, 2 |
N/A |
N/A |
No information
|
| Cerebral Palsy, Spastic Quadriplegic, 3 |
N/A |
N/A |
No information
|
| Neurological causes of muscle weakness |
N/A |
N/A |
No information
|
| Epilepsy-like myoclonic jerks |
N/A |
N/A |
No information
|
| Infectious causes of muscle weakness |
N/A |
N/A |
No information
|
| Down's syndrome-like hypotonia |
N/A |
N/A |
No information
|
| Extraocular motor nerve palsies |
N/A |
N/A |
No information
|
| Sprains and strains |
N/A |
N/A |
No information
|
| Achilles tendon contracture |
N/A |
N/A |
No information
|
| Chvostek's sign |
N/A |
N/A |
No information
|
| Opisthotonos |
N/A |
N/A |
No information
|
| Accessory muscle use |
N/A |
N/A |
No information
|
| Carpopedal spasm |
N/A |
N/A |
No information
|
| Psoas sign |
N/A |
N/A |
No information
|
| Footdrop |
N/A |
N/A |
No information
|
| Orofaciodigital syndrome, type 3 |
N/A |
N/A |
No information
|
| Sugarman syndrome |
N/A |
N/A |
No information
|
| Infantile onset spinocerebellar ataxia |
N/A |
N/A |
No information
|
| Doxorubicin-induced cardiomyopathy |
N/A |
N/A |
No information
|
| Cardiomyopathy due to anthracyclines |
N/A |
N/A |
No information
|
| Juvenile-onset dystonia |
N/A |
N/A |
No information
|
| Chorea familial benign |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, X-linked, 4 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, Machado-Joseph type IV |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, Machado-Joseph type III |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 10 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, Machado-Joseph type II |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, Machado-Joseph type V |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia -- amyotrophy -- deafness |
N/A |
N/A |
No information
|
| Poland Syndrome |
N/A |
N/A |
No information
|
| Marinesco-Sjogren-like syndrome (MSLS) |
N/A |
N/A |
No information
|
| Dystonia-Parkinsonism, Adult-Onset |
N/A |
N/A |
No information
|
| Torsion dystonia, autosomal recessive |
N/A |
N/A |
No information
|
| Proximal spinal muscular atrophy, type 4 |
N/A |
N/A |
No information
|
| Proximal spinal muscular atrophy |
N/A |
N/A |
No information
|
| Congenital benign spinal muscular atrophy dominant |
N/A |
N/A |
No information
|
| Pontocerebellar hypoplasia with infantile spinal muscular atrophy |
N/A |
N/A |
No information
|
| Arthrogryposis -- spinal muscular atrophy |
N/A |
N/A |
No information
|
| Progressive spinal muscular atrophy |
N/A |
N/A |
No information
|
| Spinal muscular atrophy -- Dandy-Walker complex -- cataracts |
N/A |
N/A |
No information
|
| SPG |
N/A |
N/A |
No information
|
| Spinal muscular atrophy, scapuloperoneal |
N/A |
N/A |
No information
|
| Proximal spinal muscular atrophy, type 1 |
N/A |
N/A |
No information
|
| Rett-like syndrome |
N/A |
N/A |
No information
|
| Congenital contractures |
N/A |
N/A |
No information
|
| Epilepsy with myoclonic-astatic crisis |
N/A |
N/A |
No information
|
| Myokymia with neonatal epilepsy |
N/A |
N/A |
No information
|
| Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp |
N/A |
N/A |
No information
|
| Convulsions benign familial neonatal dominant form |
N/A |
N/A |
No information
|
| Myoclonic epilepsy benign, adult, familial |
N/A |
N/A |
No information
|
| Epilepsy with myoclonic absences |
N/A |
N/A |
No information
|
| Epilepsy, generalized -- paroxysmal dyskinesia |
N/A |
N/A |
No information
|
| Generalized epilepsy and paroxysmal dyskinesia |
N/A |
N/A |
No information
|
| Hemiconvulsion-Hemiplegia-Epilepsy syndrome |
N/A |
N/A |
No information
|
| Epilepsy, progressive myoclonic 3 |
N/A |
N/A |
No information
|
| Mediterranean myoclonic epilepsy |
N/A |
N/A |
No information
|
| Epilepsy, myoclonic progressive familial |
N/A |
N/A |
No information
|
| Myoclonus with epilepsy with ragged red fibers |
N/A |
N/A |
No information
|
| Juvenile myoclonic epilepsy |
N/A |
N/A |
No information
|
| Infantile epileptic-dyskinetic encephalopathy |
N/A |
N/A |
No information
|
| Myoclonus progressive epilepsy of Unverricht and Lundborg |
N/A |
N/A |
No information
|
| Infantile convulsions and paroxysmal choreoathetosis, familial |
N/A |
N/A |
No information
|
| Convulsions, benign familial infantile, 1 |
N/A |
N/A |
No information
|
| Focal dystonia |
N/A |
N/A |
No information
|
| Muscle Hypertonia |
N/A |
N/A |
No information
|
| Neuronopathy, distal hereditary motor, type IV |
N/A |
N/A |
No information
|
| Dystonia 15, myoclonic |
N/A |
N/A |
No information
|
| Myotonic dystrophy type 3 |
N/A |
N/A |
No information
|
| Congenital myotonic dystrophy |
N/A |
N/A |
5 per 100 000 people suffer from myotonic dystrophy in the US
|
| Myotonic dystrophy, type 2 |
N/A |
N/A |
No information
|
| Proximal myotonic dystrophy |
N/A |
N/A |
No information
|
| Rhabdomyosarcoma, embryonal 1 |
N/A |
N/A |
No information
|
| Dystonia 4, Torsion, Autosomal Dominant |
N/A |
N/A |
No information
|
| Choreoathetosis-spasticity, episodic |
N/A |
N/A |
No information
|
| Idiopathic myopathy |
N/A |
N/A |
No information
|
| Motor neuropathy, peripheral with dysautonomia |
N/A |
N/A |
No information
|
| Multifocal motor neuropathy with conduction block |
N/A |
N/A |
No information
|
| Polymyocytis |
N/A |
N/A |
No information
|
| Myositis |
N/A |
N/A |
No information
|
| Opthalmoplegia -- mental retardation -- lingua scrotalis |
N/A |
N/A |
No information
|
| Tolosa-Hunt Syndrome |
N/A |
N/A |
No information
|
| Neuropathy, hereditary motor and sensory, LOM type |
N/A |
N/A |
No information
|
| Neuropathy, hereditary motor and sensory, Okinawa type |
N/A |
N/A |
No information
|
| Dejerine-Sottas Syndrome |
N/A |
N/A |
No information
|
| Hypertrophic neuropathy of Dejerine-Sottas |
N/A |
N/A |
No information
|
| Dejerine-Sottas disease |
N/A |
N/A |
No information
|
| Wieacker-Wolff Syndrome |
N/A |
N/A |
No information
|
| Myopathy and diabetes mellitus |
N/A |
N/A |
No information
|
| Benign paroxysmal torticollis of infancy |
N/A |
N/A |
No information
|
| Atherosclerosis, premature -- deafness -- diabetes mellitus -- photomyoclonus -- nephropathy -- degenerative neurologic disease |
N/A |
N/A |
No information
|
| Spastic paraplegia nephritis deafness |
N/A |
N/A |
No information
|
| Radioulnar synostosis mental retardation hypotonia |
N/A |
N/A |
No information
|
| Primary lateral sclerosis, adult |
N/A |
N/A |
No information
|
| Hereditary carnitine deficiency myopathy |
N/A |
N/A |
No information
|
| Neuronopathy, distal, autosomal recessive, 3 |
N/A |
N/A |
No information
|
| Dystonia with cerebellar atrophy |
N/A |
N/A |
No information
|
| Allan-Herndon-Dudley Syndrome |
N/A |
N/A |
No information
|
| Epidermolysa bullosa simplex and limb girdle muscular dystrophy |
N/A |
N/A |
No information
|
| Ichthyosis mental retardation asymptomatic spasticity |
N/A |
N/A |
No information
|
| Congenital ichthyosis, microcephalus, quadriplegia |
N/A |
N/A |
No information
|
| Arthrogryposis due to muscular dystrophy |
N/A |
N/A |
No information
|
| Arthrogryposis -- ophthalmoplegia -- retinopathy |
N/A |
N/A |
No information
|
| Dystonia 12 |
N/A |
N/A |
No information
|
| Dystonia musculorum deforms 4 |
N/A |
N/A |
No information
|
| Dystonia 13, torsion |
N/A |
N/A |
No information
|
| Dystonia 14 |
N/A |
N/A |
No information
|
| Dystonia 3, torsion, X-linked |
N/A |
N/A |
No information
|
| Dystonia 7, torsion |
N/A |
N/A |
No information
|
| Dystonia 1, Torsion, Autosomal Dominant |
N/A |
N/A |
No information
|
| Dystonia Musculorum Deformans 1 |
N/A |
N/A |
No information
|
| Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency |
N/A |
N/A |
No information
|
| Camurati Engelmann disease, type 2 |
N/A |
N/A |
No information
|
| Camurat-Engelmann disease, type 2 |
N/A |
N/A |
No information
|
| Camurati-Engelmann Disease |
N/A |
N/A |
No information
|
| Optic atrophy -- ophthalmoplegia -- ptosis -- deafness -- myopathy |
N/A |
N/A |
No information
|
| Optic atrophy opthalmoplegia ptosis deafness myopia |
N/A |
N/A |
No information
|
| Deafness, Conductive Stapedial, With Ear Malformation and Facial Palsy |
N/A |
N/A |
No information
|
| Distal myopathy, Welander type |
N/A |
N/A |
No information
|
| Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes |
N/A |
N/A |
No information
|
| Intellectual deficit -- cataracts -- calcified pinnae -- myopathy |
N/A |
N/A |
No information
|
| Aconitase deficiency |
N/A |
N/A |
No information
|
| Myopathy with Exercise Intolerance, Swedish type |
N/A |
N/A |
No information
|
| Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase |
N/A |
N/A |
No information
|
| Myopathy with Lactic Acidosis, Hereditary |
N/A |
N/A |
No information
|
| Cardiomyopathy with myopathy due to COX deficiency |
N/A |
N/A |
No information
|
| Camptodactyly -- joint contractures and facial skeletal dysplasia |
N/A |
N/A |
No information
|
| Lipid storage myopathy |
N/A |
N/A |
No information
|
| Cardiomyopathy -- hypogonadism -- metabolic anomalies |
N/A |
N/A |
No information
|
| Sarcosporidiosis |
N/A |
N/A |
No information
|
| Hypotonia, Seizures and Precocious Puberty |
N/A |
N/A |
No information
|
| Sjogren-Larsson syndrome |
N/A |
N/A |
No information
|
| Tetanus |
N/A |
N/A |
No information
|
| Congenital SMA with arthrogryposis |
N/A |
N/A |
rare
|
| Oculopharyngeal Muscular Dystrophy |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy |
N/A |
N/A |
No information
|
| Distal myopathy with vocal cord weakness |
N/A |
N/A |
No information
|
| Spasmodic dysphonia |
N/A |
N/A |
No information
|
| Spastic dysphonia |
N/A |
N/A |
No information
|
| Woolly hair -- palmoplantar keratoderma -- dilated cardiomyopathy |
N/A |
N/A |
No information
|
| Friedreich ataxia -- congenital glaucoma |
N/A |
N/A |
No information
|
| Ophthalmoplegia |
N/A |
N/A |
No information
|
| Anal sphincter myopathy, internal |
N/A |
N/A |
No information
|
| Ataxia with fasciculations |
N/A |
N/A |
No information
|
| Cardiomyopathy with myopathy due to COX deficency |
N/A |
N/A |
No information
|
| Cardiomyopathy, hypogonadism, collagenoma syndrome |
N/A |
N/A |
No information
|
| Visceral myopathy familial external ophthalmoplegia |
N/A |
N/A |
No information
|
| Myopathy, Mitochonrdrial Progressive, with Congenital Cataract, Hearing Loss and Developmental Delay |
N/A |
N/A |
No information
|
| Myopathy, Myofibrillar, BAG3-Related |
N/A |
N/A |
No information
|
| Myopathy, Congenital, Compton-North |
N/A |
N/A |
No information
|
| Myopathy due to calsequestrin and SERCA1 protein overload |
N/A |
N/A |
No information
|
| Vacuolar Cardiomyopathy and Myopathy, X-linked |
N/A |
N/A |
No information
|
| Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant |
N/A |
N/A |
No information
|
| Myopathy, Myosin storage |
N/A |
N/A |
No information
|
| Myopathy, hyaline body, autosomal dominant |
N/A |
N/A |
No information
|
| Severe dilated cardiomyopathy with or without myopathy |
N/A |
N/A |
No information
|
| Cardiomyopathy -- hearing loss, type tRNA-LYS gene mutation |
N/A |
N/A |
No information
|
| Cirrhotic cardiomyopathy |
N/A |
N/A |
No information
|
| Hereditary myopathy with intranuclear filamentous |
N/A |
N/A |
No information
|
| Vacuolar myopathy |
N/A |
N/A |
No information
|
| Peripartum cardiomyopathy |
N/A |
N/A |
No information
|
| Distal myopathy with posterior leg and anterior upper limb involvement |
N/A |
N/A |
No information
|
| Hereditary inclusion body myopathy -- joint contractures -- ophthalmoplegia |
N/A |
N/A |
No information
|
| Inclusion body myopathy, type 3 |
N/A |
N/A |
No information
|
| Inclusion body myopathy, type 3, autosomal dominant |
N/A |
N/A |
No information
|
| Inclusion body myopathy, type 3 (IBM3) |
N/A |
N/A |
No information
|
| Myopathy, Congenital, Batten Turner Type |
N/A |
N/A |
No information
|
| Scapuloperoneal amyotrophy |
N/A |
N/A |
No information
|
| Inclusion body myopathy, autosomal dominant |
N/A |
N/A |
No information
|
| Scapuloperoneal myopathy, X-linked dominant |
N/A |
N/A |
No information
|
| Amyotrophy, neurogenic scapuloperoneal, New England type |
N/A |
N/A |
No information
|
| Scapuloperoneal syndrome, neurogenic, Kaeser type |
N/A |
N/A |
No information
|
| Scapuloperoneal myopathy, MYH7-related |
N/A |
N/A |
No information
|
| Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 3B |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 2A |
N/A |
N/A |
No information
|
| Atrial cardiomyopathy with heart block |
N/A |
N/A |
No information
|
| Myopathy, early-onset with fatal cardiomyopathy |
N/A |
N/A |
No information
|
| Chagas Cardiomyopathy |
N/A |
N/A |
No information
|
| Myopathy, X-linked with postural muscle atrophy |
N/A |
N/A |
No information
|
| Laing distal myopathy |
N/A |
N/A |
No information
|
| Desmin-related myopathy with Mallory body-like inclusions |
N/A |
N/A |
No information
|
| Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency |
N/A |
N/A |
No information
|
| Cardiomyopathy, dilated, with Woolly hair and keratoderma |
N/A |
N/A |
No information
|
| Cytoplasmic body myopathy |
N/A |
N/A |
No information
|
| Cardiomyopathy, infantile histiocytoid |
N/A |
N/A |
No information
|
| Amyopathic dermatomyositis |
N/A |
N/A |
No information
|
| Hypertrophic branchial myopathy |
N/A |
N/A |
No information
|
| Brody myopathy |
N/A |
N/A |
No information
|
| Cardiomyopathy, X-linked, fatal infantile |
N/A |
N/A |
No information
|
| Cataract and cardiomyopathy |
N/A |
N/A |
No information
|
| Cardiomyopathy -- hearing loss, type t RNA lysine gene mutation |
N/A |
N/A |
No information
|
| Idiopathic dilation cardiomyopathy |
N/A |
N/A |
No information
|
| Cardiomyopathy, fatal fetal, due to myocardial calcification |
N/A |
N/A |
No information
|
| Cardiomyopathy -- spherocytosis |
N/A |
N/A |
No information
|
| Myopathy -- ophthalmoplegia -- hypoacousia -- areflexia |
N/A |
N/A |
No information
|
| Minicore myopathy, antenatal onset, with arthrogryposis |
N/A |
N/A |
No information
|
| Myopathy, congenital nonprogressive with Moebius and Robin sequences |
N/A |
N/A |
No information
|
| Myopathy mitochondrial -- cataract |
N/A |
N/A |
No information
|
| Myopathy congenital multicore with external ophthalmoplegia |
N/A |
N/A |
No information
|
| Myopathy with lactic acidosis and sideroblastic anemia |
N/A |
N/A |
No information
|
| Native American myopathy |
N/A |
N/A |
No information
|
| Minicore myopathy, moderate, with hand involvement |
N/A |
N/A |
No information
|
| Minicore myopathy with external ophthalmoplegia |
N/A |
N/A |
No information
|
| Inclusion body myopathy 3, autosomal dominant |
N/A |
N/A |
No information
|
| Mitochondrial encephalomyopathy -- aminoacidopathy |
N/A |
N/A |
No information
|
| Mitochondrial myopathy -- lactic acidosis |
N/A |
N/A |
No information
|
| Desmin related myopathy |
N/A |
N/A |
No information
|
| Distal myopathy, Markesbery-Griggs type |
N/A |
N/A |
No information
|
| Hereditary carnitine deficiency syndrome, myopathic |
N/A |
N/A |
No information
|
| Myopathy, X-linked, with excessive autophagy |
N/A |
N/A |
No information
|
| Welander distal myopathy, Swedish type |
N/A |
N/A |
No information
|
| Nemaline myopathy |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase II deficiency, myopathic |
N/A |
N/A |
No information
|
| Congenital myopathy |
N/A |
N/A |
estimated 1 per 10,000 people from Scandinavia suffer from myotonia congenita worldwide, Genetics Home Reference website
|
| Myopathy, myotubular |
N/A |
N/A |
No information
|
| Myopathy, congenital fiber-type disproportion |
N/A |
N/A |
No information
|
| Scapuloperoneal myopathy |
N/A |
N/A |
No information
|
| Centronuclear myopathy, congenital |
N/A |
N/A |
No information
|
| Myopathy with lysis of myofibrils |
N/A |
N/A |
No information
|
| Spheroid body myopathy |
N/A |
N/A |
No information
|
| Nemalin myopathy, late onset type |
N/A |
N/A |
No information
|
| Nemaline myopathy, early onset type |
N/A |
N/A |
No information
|
| Bethlem myopathy |
N/A |
N/A |
No information
|
| Myopathy tubular aggregates |
N/A |
N/A |
No information
|
| Miyoshi myopathy |
N/A |
N/A |
No information
|
| Distal myopathy |
N/A |
N/A |
No information
|
| Familial visceral myopathy |
N/A |
N/A |
No information
|
| Genital anomaly -- cardiomyopathy |
N/A |
N/A |
No information
|
| Inclusion body myopathy, 2 autosomal recessive |
N/A |
N/A |
No information
|
| Landouzy-Dejerine muscular dystrophy |
N/A |
N/A |
No information
|
| Batten-Turner muscular dystrophy |
N/A |
N/A |
No information
|
| Fukuyama type muscular dystrophy |
N/A |
N/A |
No information
|
| Emery-Dreifuss muscular dystrophy, X-linked |
N/A |
N/A |
estimated 1 per 100,000 people suffer from X-linked Emery-Dreifuss muscular dystrophy, Genetics Home Reference website
|
| Muscular dystrophy, proximal, autosomal dominant, late onset type |
N/A |
N/A |
No information
|
| Emery-Dreifuss muscular dystrophy, dominant type |
N/A |
N/A |
No information
|
| Facioscapulohumeral muscular dystrophy 1a |
N/A |
N/A |
No information
|
| Muscular dystrophy congenital, merosin negative |
N/A |
N/A |
No information
|
| Muscular dystrophy, congenital, infantile with cataract -- hypogonadism |
N/A |
N/A |
No information
|
| Muscular dystrophy, congenital, merosin-positive |
N/A |
N/A |
No information
|
| Muscular dystrophy -- white matter spongiosis |
N/A |
N/A |
No information
|
| Scleroatonic muscular dystrophy |
N/A |
N/A |
No information
|
| Ophthalmoplegic Muscular dystrophy |
N/A |
N/A |
No information
|
| Muscular Dystrophy -- Late Onset |
N/A |
N/A |
No information
|
| Hypotonic sclerotic muscular dystrophy |
N/A |
N/A |
No information
|
| Congenital muscular dystrophy syringomyelia |
N/A |
N/A |
No information
|
| Muscular dystrophy, congenital, type 1C |
N/A |
N/A |
No information
|
| Muscular dystrophy -- congenital infantile cataract -- hypogonadism |
N/A |
N/A |
No information
|
| Facioscapulohumeral Muscular Dystrophy -- Sensorineural Hearing Loss |
N/A |
N/A |
No information
|
| Scapuloperoneal Syndrome |
N/A |
N/A |
No information
|
| Muscular Dystrophy, Emery Dreifuss |
N/A |
N/A |
No information
|
| Muscular dystrophy congenital, with integrin deficiency |
N/A |
N/A |
No information
|
| Primary orthostatic tremor |
N/A |
N/A |
No information
|
| Neuroaxonal dystrophy -- renal tubular acidosis |
N/A |
N/A |
No information
|
| Rhabdomyosarcoma, embryonal 2 |
N/A |
N/A |
No information
|
| Ceroid storage disease |
N/A |
N/A |
No information
|
| Nephronophthisis familial, adult -- spastic quadriparesis |
N/A |
N/A |
No information
|
| Tremor hereditary essential, 1 |
N/A |
N/A |
No information
|
| Tremor hereditary essential, 2 |
N/A |
N/A |
No information
|
| Tremor, hereditary essential, and idiopathic normal pressure hydrocpehalus |
N/A |
N/A |
No information
|
| Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus |
N/A |
N/A |
No information
|
| Microcephaly -- mental retardation -- spasticity -- epilepsy |
N/A |
N/A |
No information
|
| Smith-Fineman-Myers syndrome 1 |
N/A |
N/A |
No information
|
| Smith-Fineman-Myers syndrome 2 |
N/A |
N/A |
No information
|
| Multicore disease |
N/A |
N/A |
No information
|
| Limb dystonia |
N/A |
N/A |
No information
|
| Franek-Bocker-Kahlen syndrome |
N/A |
N/A |
No information
|
| Microcephaly brain defect spasticity hypernatremia |
N/A |
N/A |
No information
|
| Torsion dystonia with onset in infancy |
N/A |
N/A |
No information
|
| Corpus callosum, agenesis of, blepharophimosis Robin type |
N/A |
N/A |
No information
|
| Spasticity -- multiple exostoses |
N/A |
N/A |
No information
|
| Benign congenital hypotonia |
N/A |
N/A |
No information
|
| Paramyotonia congenita |
N/A |
N/A |
less than 1 per 100,000 people are affected by paramyotonia congenital, Genetics Home Reference website
|
| $3-methylglutaconic aciduria, type 1$ |
N/A |
N/A |
less than 20 cases of 2-methylglutaconic aciduria type 1 have been reported, Genetics Home Reference website
|
| $3-methylglutaconic aciduria, type V$ |
N/A |
N/A |
No information
|
| Barth Syndrome |
N/A |
N/A |
1 per 200,000 male infants suffer from 2-methylglutaconic aciduria type 2, Genetics Home Reference website
|
| Zellweger Syndrome |
N/A |
N/A |
rare
|
| Prader-Willi syndrome |
N/A |
N/A |
estimated 1 per 10,000 - 25,000 people suffer from Prader-Willi syndrome, Genetics Home Reference website
|
| Progressive External Opthhalmoplegia, Autosomal Dominant, 5 |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant, 4 |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant, 3 |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant, 2 |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant, 1 |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant |
N/A |
N/A |
No information
|
| Craniosynostosis contractures cleft |
N/A |
N/A |
No information
|
| Neuropathy, distal hereditary motor, Jerash type |
N/A |
N/A |
No information
|
| Progressive supranuclear palsy, atypical |
N/A |
N/A |
No information
|
| Rippling muscle disease |
N/A |
N/A |
No information
|
| Spastic tetraplegic -- cerebral palsy |
N/A |
N/A |
No information
|
| Precocious myoclonic encephalopathy |
N/A |
N/A |
No information
|
| Spasticity -- mental retardation |
N/A |
N/A |
No information
|
| Motor neuropathy |
N/A |
N/A |
No information
|
| Rippling muscle disease, 1 |
N/A |
N/A |
No information
|
| Rippling muscle disease, 2 |
N/A |
N/A |
No information
|
| Cerebral palsy, spastic, diplegic |
N/A |
N/A |
No information
|
| Chorea, remitting with nystagmus and cataracts |
N/A |
N/A |
No information
|
| Familial periodic paralysis |
N/A |
N/A |
No information
|
| Down Syndrome |
N/A |
N/A |
No information
|
| Cri-du-chat syndrome |
N/A |
N/A |
1 per 200,000-500,000 newborns are affected by Cri-du-chat syndrome, Genetics Home Reference website
|
| Fragile-X Syndrome |
N/A |
N/A |
approximately 1 per 8,000 females suffer from fragile X syndrome, Genetics Home Reference website
|
| Huntington's Disease |
N/A |
N/A |
estimated 3-7 per 100,000 people of European ancestry suffer from Huntington disease, Genetics Home Reference website
|
| Machado-Joseph Disease |
N/A |
N/A |
rare
|
| Kearns-Sayre Syndrome |
N/A |
N/A |
rare
|
| MELAS |
N/A |
N/A |
No information
|
| Rett's syndrome |
N/A |
N/A |
estimated 1 per 10,000 - 22,000 females suffer from Rett syndrome, Genetics Home Reference website
|
| Lafora body disease |
N/A |
N/A |
No information
|
| Benign essential blepharospasm |
N/A |
N/A |
No information
|
| Brachial Plexus Injury |
N/A |
N/A |
No information
|
| Brown-Sequard Syndrome |
N/A |
N/A |
rare
|
| Erb's Palsy |
N/A |
N/A |
No information
|
| Anotia -- facial palsy -- cardiac defect |
N/A |
N/A |
No information
|
| Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response |
N/A |
N/A |
No information
|
| Juvenile dermatomyositis |
N/A |
N/A |
No information
|
| Cerebellar ataxia, infantile with progressive external ophthalmoplegia |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase deficiency |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase 2 deficiency |
N/A |
N/A |
No information
|
| Spasticity -- mental retardation -- epilepsy, X-linked |
N/A |
N/A |
No information
|
| Spastic paraplegia glaucoma precocious puberty |
N/A |
N/A |
No information
|
| Hereditary carnitine deficiency |
N/A |
N/A |
No information
|
| Pompe disease |
N/A |
N/A |
1 per 40,000 people suffer from Pompe disease, Genetics Home Reference website
|
| Torsion dystonia |
N/A |
N/A |
No information
|
| Juvenile primary lateral sclerosis |
N/A |
N/A |
only a few cases of juvenile primary lateral sclerosis have been reported, Genetics Home Reference website
|
| Muxcle Phosphoglycerate mutase deficiency |
N/A |
N/A |
No information
|
| Aldolase A deficiency |
N/A |
N/A |
No information
|
| Muscle phosphoglycerate kinase deficiency |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase 1 deficiency |
N/A |
N/A |
less than 50 people suffer from Jervell and Lange-Nielsen syndrome worldwide, Genetics Home Reference website
|
| Hereditary carnitine deficiency syndrome, systemic |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase II deficiency, lethal neonatal form |
N/A |
N/A |
the lethal neonatal form of carnitine palitoyl transferase II deficiency has been reported in 10 families, Genetics Home Reference website
|
| Lactate dehydrogenase deficiency |
N/A |
N/A |
No information
|
| Hereditary carnitine deficiency syndrome |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type |
N/A |
N/A |
the infantile hepatocardiomusucular form of carnitine palmitoyl transferase II deficiency has been reported in 10 families, Genetics Home Reference website
|
| Carnitine transporter deficiency |
N/A |
N/A |
1 per 40,000 newborns suffer from primary carnitine deficiency in Japan, Genetics Home Reference website
|
| Phosphoglycerate kinase 1 deficiency |
N/A |
N/A |
No information
|
| Lactate dehydrogenase deficiency type A |
N/A |
N/A |
No information
|
| Lactate dehydrogenase deficiency type C |
N/A |
N/A |
No information
|
| Respiratory muscle paralysis |
N/A |
N/A |
No information
|
| Chikungunya fever-like intense Muscle aches |
N/A |
N/A |
No information
|
| Rat-bite fever |
N/A |
N/A |
No information
|
| Spirochetes disease |
N/A |
N/A |
No information
|
| Infective myositis |
N/A |
N/A |
No information
|
| Sarcoglycanopathy |
N/A |
N/A |
No information
|
| Bicipital tendinosis |
N/A |
N/A |
No information
|
| Bicipital tendonitis |
N/A |
N/A |
No information
|
| Bicipital syndrome |
N/A |
N/A |
No information
|
| Alpha-sarcoglycanopathy |
N/A |
N/A |
No information
|
| FG syndrome 1 |
N/A |
N/A |
No information
|
| FG syndrome 2 |
N/A |
N/A |
No information
|
| FG syndrome 3 |
N/A |
N/A |
No information
|
| FG syndrome 4 |
N/A |
N/A |
No information
|
| FG syndrome 5 |
N/A |
N/A |
No information
|
| Leiomyoma |
N/A |
N/A |
No information
|
| Leimyoma |
N/A |
N/A |
No information
|
| Sixth nerve palsy, benign |
N/A |
N/A |
No information
|
| Fibrosis of extraocular muscles, congenital, 2 |
N/A |
N/A |
No information
|
| Fibrosis of extraocular muscles, congenital, 3 |
N/A |
N/A |
No information
|
| Fibrosis of extraocular muscles, congenital with synergistic divergence |
N/A |
N/A |
No information
|
| Fibrosis of extraocular muscles, congenital (FEOM) |
N/A |
N/A |
No information
|
| Fibrosis of extraocular muscles, congenital, 1 |
N/A |
N/A |
No information
|
| Benign essential tremor syndrome |
N/A |
N/A |
No information
|
| Delta-sarcoglycanopathy |
N/A |
N/A |
No information
|
| Odontoma -- dysphagia syndrome |
N/A |
N/A |
No information
|
| Hypotonia-cystinuria syndrome |
N/A |
N/A |
No information
|
| Cerebellar ataxia -- areflexia -- pes cavus -- optic atrophy -- sensorineural hearing loss |
N/A |
N/A |
No information
|
| Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss |
N/A |
N/A |
No information
|
| Narcolepsy with cataplexy |
N/A |
N/A |
No information
|
| Angiopathy, hereditary, with nephropathy, aneurysms and muscle cramps |
N/A |
N/A |
No information
|
| Nephronophtisis familial, adult form -- spastic quadriparesia |
N/A |
N/A |
No information
|
| Developmental malformations -- deafness -- dystonia |
N/A |
N/A |
No information
|
| Hypertrophic subaortic stenosis |
N/A |
N/A |
No information
|
| Myodysplasia |
N/A |
N/A |
No information
|
| Oppenheim's dystonia |
N/A |
N/A |
No information
|
| Disseminated Sclerosis with Narcolepsy |
N/A |
N/A |
No information
|
| Hypertrophy and Asymmetry of the Facial Muscles |
N/A |
N/A |
No information
|
| Minicore disease |
N/A |
N/A |
No information
|
| Motor and cognitive disorder due to sepiapterin reductase deficiency |
N/A |
N/A |
No information
|
| Primrose Syndrome |
N/A |
N/A |
No information
|
| Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys |
N/A |
N/A |
No information
|
| Myasthenia, familial |
N/A |
N/A |
No information
|
| Idiopathic dystonia DYT1 |
N/A |
N/A |
No information
|
| Unverricht-Lundborg disease |
N/A |
N/A |
No information
|
| Unverricht-Lundborg syndrome |
N/A |
N/A |
No information
|
| Anterior horn disease |
N/A |
N/A |
No information
|
| Corpus callosum dysgenesis cleft spasm |
N/A |
N/A |
No information
|
| Congenital myasthenic syndromes |
N/A |
N/A |
No information
|
| Multiminicore disease (MmD) |
N/A |
N/A |
No information
|
| Ataxia, episodic -- vertigo -- tinnitus -- myokymia |
N/A |
N/A |
No information
|
| Ossification anomalies -- psychomotor development delay |
N/A |
N/A |
No information
|
| Scapuloperoneal syndrome, neurogenic type |
N/A |
N/A |
No information
|
| Torticollis, keloids, cryptorchidism, renal dysplasia |
N/A |
N/A |
No information
|
| Paraplegia -- brachydactyly -- cone-shaped epiphysis |
N/A |
N/A |
No information
|
| Wolfram's disease |
N/A |
N/A |
No information
|
| Dystrophia myotonica 1 |
N/A |
N/A |
No information
|
| Robinow-Unger syndrome |
N/A |
N/A |
No information
|
| Alport Syndrome |
N/A |
N/A |
1 per 50,000 newborns suffer from Alport syndrome, Genetics Home Reference website
|
| Achalasia microcephaly |
N/A |
N/A |
No information
|
| Achalasia, familial esophageal |
N/A |
N/A |
No information
|
| Achalasia -- Addisonianism -- Alacrimia syndrome |
N/A |
N/A |
No information
|
| Achalasia -- alacrimia syndrome |
N/A |
N/A |
No information
|
| Phocomelia -- contractures -- absent thumb |
N/A |
N/A |
No information
|
| Acro-pectoro-renal field defect |
N/A |
N/A |
No information
|
| Spastic paraplegia with precocious puberty |
N/A |
N/A |
No information
|
| Congenital absence of the sternocleidomastoid muscle |
N/A |
N/A |
No information
|
| Contractures -- ectodermal dysplasia -- cleft lip palate |
N/A |
N/A |
No information
|
| Spastic paraparesis deafness |
N/A |
N/A |
No information
|
| Distal hereditary motor neuropathy, type V |
N/A |
N/A |
only a few cases of distal hereditary motor neuropathy, type V have been reported, Genetics Home Reference website
|
| Lower motor neuron weakness |
N/A |
N/A |
No information
|
| Upper motor neuron weakness |
N/A |
N/A |
No information
|
| Severe infantile axonal neuropathy |
N/A |
N/A |
No information
|
| Adrenomyeloneuropathy |
N/A |
N/A |
No information
|
| Neuropathy, distal hereditary motor |
N/A |
N/A |
No information
|
| Neuropathy, distal hereditary motor, type VIIA |
N/A |
N/A |
No information
|
| Polyradiculoneuropathy |
N/A |
N/A |
No information
|
| Neuropathy, distal hereditary motor, type III |
N/A |
N/A |
No information
|
| Congenital hypomyelination neuropathy |
N/A |
N/A |
No information
|
| Corpus callosum agenesis-neuropathy |
N/A |
N/A |
No information
|
| Giant axonal neuropathy |
N/A |
N/A |
No information
|
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
N/A |
N/A |
No information
|
| Myoclonic dystonia |
N/A |
N/A |
No information
|
| Infantile axonal neuropathy |
N/A |
N/A |
No information
|
| Spastic paraplegia -- neuropathy -- poikiloderma |
N/A |
N/A |
No information
|
| Facial paresis, hereditary, congenital |
N/A |
N/A |
No information
|
| Idiopathic double athetosis |
N/A |
N/A |
No information
|
| Palmoplantar keratoderma -- amyotrophy |
N/A |
N/A |
No information
|
| Contractures hyperkeratosis lethal |
N/A |
N/A |
No information
|
| Nevo syndrome |
N/A |
N/A |
No information
|
| Ectomorphic Habitus -- Severe Mental Retardation -- Characteristic Face |
N/A |
N/A |
No information
|
| Congenital fiber type disproportion |
N/A |
N/A |
No information
|
| Achalasia -- addisonianism -- alacrima syndrome |
N/A |
N/A |
No information
|
| Achalasia, primary |
N/A |
N/A |
No information
|
| Torsion dystonia, autosomal dominant |
N/A |
N/A |
No information
|
| Hereditary peripheral nervous disorder |
N/A |
N/A |
No information
|
| Ataxia -- oculomotor apraxia, type 1 |
N/A |
N/A |
No information
|
| Tel-Hashomer camptodactyly syndrome |
N/A |
N/A |
No information
|
| Contractures, congenital, torticollis and malignant hyperthermia |
N/A |
N/A |
No information
|
| Muscle phosphoglycerate mutase deficiency |
N/A |
N/A |
No information
|
| Coffin-Lowry syndrome |
N/A |
N/A |
estimated 7 per 100,000 people have Coffin-Lowry syndrome in western Europe and North America, Genetics Home Reference website
|
| Fahr's Syndrome |
N/A |
N/A |
rare
|
| Inclusion Body Myositis |
N/A |
N/A |
No information
|
| Infantile Spasms |
N/A |
N/A |
No information
|
| Melkersson-Rosenthal Syndrome |
N/A |
N/A |
No information
|
| Hypokalemic periodic paralysis |
N/A |
N/A |
1 per 100,000 people suffer from hypokalemic periodic paralysis, Genetics Home Reference website
|
| Hyperkalemic periodic paralysis |
N/A |
N/A |
1 per 200,000 people are affected by hyperkalemic periodic paralysis, Genetics Home Reference website
|
| Periodic Paralyses |
N/A |
N/A |
No information
|
| Subacute Sclerosing Panencephalitis |
N/A |
N/A |
rare - because of the rarity of measles due to vaccination programs.
|
| Stiff-Person Syndrome |
N/A |
N/A |
rare
|
| Cerebelloparenchymal autosomal recessive disorder 3 |
N/A |
N/A |
No information
|
| Cerebelloparenchymal disorder 3 |
N/A |
N/A |
No information
|
| Cerebelloparenchymal disorder V |
N/A |
N/A |
No information
|
| L1 Syndrome |
N/A |
N/A |
No information
|
| FG Syndrome |
N/A |
N/A |
No information
|
| Cat's cry |
N/A |
N/A |
No information
|
| Congenital torticollis |
N/A |
N/A |
No information
|
| Normokalemic periodic paralysis |
N/A |
N/A |
No information
|
| Alternating hemiplegia of childhood |
N/A |
N/A |
No information
|
| Isaacs syndrome |
N/A |
N/A |
No information
|
| Muscle-eye-brain syndrome |
N/A |
N/A |
No information
|
| Deafness, vitiligo, achalasia |
N/A |
N/A |
No information
|
| Spastic quadriplegia -- retinitis pigmentosa -- mental retardation |
N/A |
N/A |
No information
|
| Spinal atrophy -- ophthalmoplegia -- pyramidal syndrome |
N/A |
N/A |
No information
|
| Spastic diplegia, infantile type |
N/A |
N/A |
No information
|
| Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations |
N/A |
N/A |
No information
|
| Opthalmoplegia -- myalgia -- tubular aggregates |
N/A |
N/A |
No information
|
| Short stature -- contractures -- hypotonia |
N/A |
N/A |
No information
|
| Multiple sclerosis -- ichthyosis -- factor 8 deficiency |
N/A |
N/A |
No information
|
| Recurrent peripheral facial palsy |
N/A |
N/A |
No information
|
| Polyneuropathy -- mental retardation -- acromicria -- premature menopause |
N/A |
N/A |
No information
|
| Myoclonus-ataxia |
N/A |
N/A |
No information
|
| Coarse face -- hypotonia -- constipation |
N/A |
N/A |
No information
|
| Spastic paresis -- glaucoma -- mental retardation |
N/A |
N/A |
No information
|
| Primerose syndrome |
N/A |
N/A |
No information
|
| Spastic paraplegia with Kallmann syndrome |
N/A |
N/A |
No information
|
| Tsao-Ellingson syndrome |
N/A |
N/A |
No information
|
| Kousseff-Nichols syndrome |
N/A |
N/A |
No information
|
| Pyomyositis |
N/A |
N/A |
No information
|
| Macrogyria, pseudobulbar palsy and mental retardation |
N/A |
N/A |
No information
|
| Marfanoid -- mental retardation syndrome autosomal |
N/A |
N/A |
No information
|
| Neuritis with brachial predilection |
N/A |
N/A |
No information
|
| Pseudomyotonia |
N/A |
N/A |
No information
|
| Lethal congenital contracture syndrome 1 |
N/A |
N/A |
No information
|
| Lethal congenital contracture syndrome 2 |
N/A |
N/A |
No information
|
| Cerebellum agenesis -- hydrocephaly |
N/A |
N/A |
No information
|
| Disorder of Cornification 12 (Neutral Lipid Storage Type) |
N/A |
N/A |
No information
|
| Familial hematuria, autosomal dominant -- retinal arteriolar tortuosity -- contractures |
N/A |
N/A |
No information
|
| Neuronopathy, distal hereditary motor, type IIB |
N/A |
N/A |
No information
|
| Muscle Hypotonia |
N/A |
N/A |
No information
|
| Microcephaly micropenis convulsions |
N/A |
N/A |
No information
|
| Degenerative motor system disease |
N/A |
N/A |
No information
|
| Periodic paralysis, potassium-sensitive, cardiodysrythmic type |
N/A |
N/A |
No information
|
| Shprintzen-Golberg craniosynostosis |
N/A |
N/A |
No information
|
| Shprintzen-Goldberg syndrome |
N/A |
N/A |
No information
|
| Macrocephaly -- short stature -- paraplegia |
N/A |
N/A |
No information
|
| X-linked mental retardation -- hypotonia |
N/A |
N/A |
No information
|
| Opthalmoplegia ataxia hypoacusis |
N/A |
N/A |
No information
|
| Facio-cardio-musculo-skeletal syndrome |
N/A |
N/A |
No information
|
| Hypotonia -- failure to thrive -- microcephaly |
N/A |
N/A |
No information
|
| Loeffler's endocarditis |
N/A |
N/A |
No information
|
| Hyperkinesis |
N/A |
N/A |
No information
|
| Alcoholic, reversible acute muscular |
N/A |
N/A |
No information
|
| Mc Leod neuroacanthocytosis syndrome |
N/A |
N/A |
No information
|
| Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |
N/A |
N/A |
No information
|
| Ossification anomalies -- psychomotor development |
N/A |
N/A |
No information
|
| Achondroplasia regional -- dysplasia abdominal muscle |
N/A |
N/A |
No information
|
| Leigh syndrome, Saguenay-Lac-St. Jean type |
N/A |
N/A |
No information
|
| Koussef nichols syndrome |
N/A |
N/A |
No information
|
| Lethal congenital contracture syndrome (LCCS) |
N/A |
N/A |
No information
|
| Unusual facies, hypotonia, mental retardation and radioulnar synostosis |
N/A |
N/A |
No information
|
| Limbic encephalitis -- neuromyotonia -- hyperhidrosis -- polyneuropathy |
N/A |
N/A |
No information
|
| Monomelic Amyotrophy |
N/A |
N/A |
No information
|
| Soto's Syndrome |
N/A |
N/A |
rare
|
| Todd's Paralysis |
N/A |
N/A |
No information
|
| Wallenberg's Syndrome |
N/A |
N/A |
No information
|
| Neuromyotonia |
N/A |
N/A |
No information
|
| Cataplexy |
N/A |
N/A |
No information
|
| Intermittent Claudication |
N/A |
N/A |
No information
|
| Tetany |
N/A |
N/A |
No information
|
| Vaginismus |
N/A |
N/A |
No information
|
| Brachial Neuritis |
N/A |
N/A |
No information
|
| Benign Fasciculation Syndrome |
N/A |
N/A |
No information
|
| Rhabdomyolysis |
N/A |
N/A |
No information
|
| Myokymia |
N/A |
N/A |
No information
|
| Walker-Warburg Syndrome |
N/A |
N/A |
No information
|
| Locked-in Syndrome |
N/A |
N/A |
No information
|
| Hyperekplexia |
N/A |
N/A |
No information
|
| Sensorineural hearing loss, early greying, and essential tremor |
N/A |
N/A |
No information
|
| Polyneuropathy -- Ophthalmoplegia -- Leukoencehalopathy -- Intestinal Pseudo-Obstruction |
N/A |
N/A |
No information
|
| Spastic dysarthria |
N/A |
N/A |
No information
|
| Kuf Disease |
N/A |
N/A |
No information
|
| Fibrodysplasia Ossificans Progressiva |
N/A |
N/A |
No information
|
| Lambert-Eaton Myasthenic Syndrome |
N/A |
N/A |
No information
|
| XLMR-Hypotonic Facies Syndrome |
N/A |
N/A |
No information
|
| Wolf-Hirschhorn Syndrome |
N/A |
N/A |
No information
|
| Mulibrey Nanism syndrome |
N/A |
N/A |
No information
|
| Central Core Disease |
N/A |
N/A |
No information
|
| Cohen Syndrome |
N/A |
N/A |
No information
|
| MULIBREY Nanism |
N/A |
N/A |
No information
|
| Schwartz-Jampel Syndrome |
N/A |
N/A |
No information
|
| Neuronal intranuclear hyaline inclusion disease |
N/A |
N/A |
No information
|
| Ophtalmoplegia -- ataxia -- hypoacusis |
N/A |
N/A |
No information
|
| Cutler Syndrome |
N/A |
N/A |
No information
|
| Slavotinek hurst syndrome |
N/A |
N/A |
No information
|
| Saguenay-Lac Saint Jean -- COX deficiency |
N/A |
N/A |
No information
|
| Claudication pain |
N/A |
N/A |
No information
|
| Dancing Eye syndrome |
N/A |
N/A |
No information
|
| Cirrhosis-like flapping tremens |
N/A |
N/A |
No information
|
| Gustavson syndrome |
N/A |
N/A |
No information
|
| Cruse Syndrome |
N/A |
N/A |
No information
|
| Dyck Syndrome |
N/A |
N/A |
No information
|
| Segawa syndrome, autosomal dominant |
N/A |
N/A |
No information
|
| Segawa syndrome, autosomal recessive |
N/A |
N/A |
No information
|
| FOSMN syndrome |
N/A |
N/A |
No information
|
| Levy-Yeboa Syndrome |
N/A |
N/A |
No information
|
| MADSAM |
N/A |
N/A |
No information
|
| Mazabraud syndrome |
N/A |
N/A |
No information
|
| Segawa Syndrome |
N/A |
N/A |
No information
|
| Satoyoshi syndrome 2 |
N/A |
N/A |
No information
|
| Spastic pelvic floor syndrome |
N/A |
N/A |
No information
|
| Todd paralysis |
N/A |
N/A |
No information
|
| Zellweger-like syndrome, without peroxisomal anomalies |
N/A |
N/A |
No information
|
| Stiff baby syndrome |
N/A |
N/A |
No information
|
| Verloes-Deprez syndrome |
N/A |
N/A |
No information
|
| Urban rogers meyer syndrome |
N/A |
N/A |
No information
|
| Hedblom syndrome |
N/A |
N/A |
No information
|
| Heerfordt syndrome |
N/A |
N/A |
No information
|
| Keutel syndrome 2 |
N/A |
N/A |
No information
|
| Latham-Munro syndrome |
N/A |
N/A |
No information
|
| Leschke syndrome |
N/A |
N/A |
No information
|
| Lissauer paralysis |
N/A |
N/A |
No information
|
| Lubarsch-Pick syndrome |
N/A |
N/A |
No information
|
| May-White syndrome |
N/A |
N/A |
No information
|
| McLetchie-Aikens syndrome |
N/A |
N/A |
No information
|
| Hemifacial atrophy agenesis of the caudate nucleus |
N/A |
N/A |
No information
|
| Jankovic-Rivera syndrome |
N/A |
N/A |
No information
|
| Filaminopathy, autosomal dominant |
N/A |
N/A |
No information
|
| Coffin syndrome 1 |
N/A |
N/A |
No information
|
| Bruyn-Scheltens syndrome |
N/A |
N/A |
No information
|
| Camera-Marugo-Cohen syndrome |
N/A |
N/A |
No information
|
| Acanthosis nigricans muscle cramps acral enlargement |
N/A |
N/A |
No information
|
| Cramp-fasciculations syndrome |
N/A |
N/A |
No information
|
| Levator syndrome |
N/A |
N/A |
No information
|
| Choreoacanthocytosis amyotrophic |
N/A |
N/A |
No information
|
| Koone-Rizzo-Elias syndrome |
N/A |
N/A |
No information
|
| Dentatorubral pallidoluysian disorder |
N/A |
N/A |
No information
|
| Brushfield-Wyatt syndrome |
N/A |
N/A |
No information
|
| Allen-Masters syndrome |
N/A |
N/A |
No information
|
| Satchmo syndrome |
N/A |
N/A |
No information
|
| Berger paresthesia |
N/A |
N/A |
No information
|
| Bruns-Garland syndrome |
N/A |
N/A |
No information
|
| FACWA syndrome |
N/A |
N/A |
No information
|
| Floppy infant syndrome |
N/A |
N/A |
No information
|
| Foix-Alajouanine syndrome |
N/A |
N/A |
No information
|
| Gamstorp-Wohlfart syndrome |
N/A |
N/A |
No information
|
| Gerlier disease |
N/A |
N/A |
No information
|
| Golden-Lakin syndrome |
N/A |
N/A |
No information
|
| Nguyen syndrome |
N/A |
N/A |
No information
|
| Myoglobinuria recurrent |
N/A |
N/A |
No information
|
| Paroxysmal kinesigenic choreoathetosis |
N/A |
N/A |
No information
|
| Myoclonus hereditary -- progressive distal muscular atrophy |
N/A |
N/A |
No information
|
| Nakajo-Nishimura syndrome |
N/A |
N/A |
No information
|
| Myoglobinuria, dominant form |
N/A |
N/A |
No information
|
| Supranuclear ocular palsy |
N/A |
N/A |
No information
|
| Passos-Bueno syndrome |
N/A |
N/A |
No information
|
| Myasthenic syndrome, congenital, slow-channel |
N/A |
N/A |
No information
|
| Nondystrophic myotonia |
N/A |
N/A |
No information
|
| Perimyositis |
N/A |
N/A |
No information
|
| Muscular fibrosis, multifocal -- obstructed vessels |
N/A |
N/A |
No information
|
| Nathalie syndrome |
N/A |
N/A |
No information
|
| Fitzsimmons-Walson-Mellor syndrome |
N/A |
N/A |
No information
|
| Emerinopathy |
N/A |
N/A |
No information
|
| Froster-Iskenius-Waterson syndrome |
N/A |
N/A |
No information
|
| Davis-Lafer syndrome |
N/A |
N/A |
No information
|
| Richieri-Costa Da Silva syndrome |
N/A |
N/A |
No information
|
| Dysharmonic skeletal maturation -- muscular fiber disproportion |
N/A |
N/A |
No information
|
| Jung-Wolff-Back-Stahl syndrome |
N/A |
N/A |
No information
|
| Mousa-Al Din-Al Nassar syndrome |
N/A |
N/A |
No information
|
| Developmental delay -- hypotonia extremities hypertrophy |
N/A |
N/A |
No information
|
| Neuronal intranuclear inclusion disease |
N/A |
N/A |
No information
|
| Powell-Venencie-Gordon syndrome |
N/A |
N/A |
No information
|
| Arnold Stickler Bourne syndrome |
N/A |
N/A |
No information
|
| Fanconi-ichthyosis-dysmorphism |
N/A |
N/A |
No information
|
| Snyder-Robinson syndrome |
N/A |
N/A |
No information
|
| TRAPS (TNF-receptor-associated periodic syndrome) |
N/A |
N/A |
No information
|
| Guam disease |
N/A |
N/A |
No information
|
| Lactate dehydrogenase deficiency type B |
N/A |
N/A |
No information
|
| Macrophagic myofasciitis |
N/A |
N/A |
No information
|
| Trigonocephaly -- bifid nose -- acral anomalies |
N/A |
N/A |
No information
|
| Cyprus facial neuromusculoskeletal syndrome |
N/A |
N/A |
No information
|
| Arima syndrome |
N/A |
N/A |
No information
|
| Peptidic growth factors deficiency |
N/A |
N/A |
No information
|
| Medrano-Roldan syndrome |
N/A |
N/A |
No information
|
| Bahemuka Brown syndrome |
N/A |
N/A |
No information
|
| Stoll-Alembik-Finck syndrome |
N/A |
N/A |
No information
|
| Furukawa-Takagi-Nakao syndrome |
N/A |
N/A |
No information
|
| Fernhoff-Blackston-Oakley syndrome |
N/A |
N/A |
No information
|
| Colver-Steer-Godman syndrome |
N/A |
N/A |
No information
|
| Treft-Sanborn-Carey syndrome |
N/A |
N/A |
No information
|
| Satoyoshi syndrome |
N/A |
N/A |
No information
|
| Fitzsimmons-McLachlan-Gilbert syndrome |
N/A |
N/A |
No information
|
| Pitt-Hopkins syndrome |
N/A |
N/A |
No information
|
| Okamuto Satomura syndrome |
N/A |
N/A |
No information
|
| Rhizomelic pseudopolyarthritis |
N/A |
N/A |
No information
|
| Myositis ossificans post-traumatic |
N/A |
N/A |
No information
|
| Pallidopyramidal syndrome |
N/A |
N/A |
No information
|
| Renier-Gabreels-Jasper syndrome |
N/A |
N/A |
No information
|
| Dejerine-Klumpke syndrome |
N/A |
N/A |
No information
|
| Berk-Tabatznik syndrome |
N/A |
N/A |
No information
|
| Ziehen-Oppenheim syndrome |
N/A |
N/A |
No information
|
| Perisylvian syndrome |
N/A |
N/A |
No information
|
| Goldberg-Shprintzen megacolon syndrome |
N/A |
N/A |
No information
|
| Brown-Vialetto-Van Laere syndrome |
N/A |
N/A |
No information
|
| Idiopathic intestinal pseudoobstruction |
N/A |
N/A |
No information
|
| Myoglobinuria |
N/A |
N/A |
No information
|
| BOR-Duane hydrocephalus contiguous gene syndrome |
N/A |
N/A |
No information
|
| Bassoe syndrome |
N/A |
N/A |
No information
|
| Boylan-Dew-Greco syndrome |
N/A |
N/A |
No information
|
| Crisponi syndrome |
N/A |
N/A |
No information
|
| De Grouchy Syndrome |
N/A |
N/A |
No information
|
| Lower limb anomaly -- ureteral obstruction |
N/A |
N/A |
No information
|
| Fitzsimmons-Guilbert syndrome |
N/A |
N/A |
No information
|
| Roy-Maroteaux-Kremp syndrome |
N/A |
N/A |
No information
|
| Diomedi-Bernardi-Placidi syndrome |
N/A |
N/A |
No information
|
| Saul-Wilkes-Stevenson syndrome |
N/A |
N/A |
No information
|
| Opitz-Reynolds-Fitzgerald syndrome |
N/A |
N/A |
No information
|
| Boucher-Neuhauser syndrome |
N/A |
N/A |
No information
|
| Seemanova-Lesny syndrome |
N/A |
N/A |
No information
|
| Reese-Ellsworth syndrome |
N/A |
N/A |
No information
|
| Adrenomyodystrophy |
N/A |
N/A |
No information
|
| Marsden syndrome |
N/A |
N/A |
No information
|
| Small syndrome |
N/A |
N/A |
No information
|
| Di Mauro-Hartlage syndrome |
N/A |
N/A |
No information
|
| Fisher (M.) syndrome |
N/A |
N/A |
No information
|
| Myositis ossificans |
N/A |
N/A |
estimated 1 per 2 million people are affected by fibrodysplasia ossificans progressiva, Genetics Home Reference website
|
| Prune belly syndrome |
N/A |
N/A |
No information
|
| Megacystis microcolon intestinal hypoperistalsis syndrome |
N/A |
N/A |
No information
|
| Becker disease |
N/A |
N/A |
No information
|
| Erb-Goldflam |
N/A |
N/A |
No information
|
| Kocher-Debre-Semelaigne syndrome |
N/A |
N/A |
No information
|
| Leigh syndrome, French Canadian type |
N/A |
N/A |
No information
|
| Meige syndrome |
N/A |
N/A |
No information
|
| Juberg-Marsidi syndrome |
N/A |
N/A |
No information
|
| Eosinophilia-myalgia syndrome |
N/A |
N/A |
No information
|
| Andersen-Tawil syndrome |
N/A |
N/A |
100 people have been reported with Andersen-Tawil syndrome worldwide, Genetics Home Reference
|
| Brown syndrome |
N/A |
N/A |
No information
|
| Levine-Critchley syndrome |
N/A |
N/A |
No information
|
| Potassium aggravated myotonia |
N/A |
N/A |
only a few cases of potassium aggravated myotonia have been reported worldwide, Genetics Home Reference website
|
| Congenital myasthenic syndrome with episodic apnea |
N/A |
N/A |
No information
|
| Ramsay Hunt Syndrome type I |
N/A |
N/A |
No information
|
| Parsonage Turner syndrome |
N/A |
N/A |
No information
|
| Worster Drought syndrome |
N/A |
N/A |
No information
|
| Wallerian degeneration |
N/A |
N/A |
No information
|
| Westphal disease |
N/A |
N/A |
No information
|
| Winter Harding Hyde syndrome |
N/A |
N/A |
No information
|
| Wells Jankovic syndrome |
N/A |
N/A |
No information
|
| Amyoplasia |
N/A |
N/A |
No information
|
| Amyotonia congenita |
N/A |
N/A |
No information
|
| Oculomelic amyoplasia |
N/A |
N/A |
No information
|
| Lundberg II syndrome |
N/A |
N/A |
No information
|
| Kuskokwim disease |
N/A |
N/A |
No information
|
| Fazio-Londe syndrome |
N/A |
N/A |
No information
|
| Herrmann syndrome |
N/A |
N/A |
No information
|
| Leschke-Ullmann syndrome |
N/A |
N/A |
No information
|
| King-Denborough syndrome |
N/A |
N/A |
No information
|
| Foix-Chavany-Marie syndrome |
N/A |
N/A |
No information
|
| Pseudodiastrophic dysplasia |
N/A |
N/A |
No information
|
| Frontometaphyseal dysplasia |
N/A |
N/A |
No information
|
| Distal arthrogryposis syndrome |
N/A |
N/A |
No information
|
| Hecht syndrome |
N/A |
N/A |
No information
|
| Behr syndrome |
N/A |
N/A |
No information
|
| Wieacker syndrome |
N/A |
N/A |
No information
|
