| Disease | Prevalence Estimate | US people 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 |
approx 1 in 20,205 or 0.00% or 13,461 people in USA |
13,461 |
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 |
approx 1 in 20,000 or 0.00% or 13,600 people in USA |
13,599 |
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 |
N/A |
N/A |
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 |
approx 1 in 6,000 or 0.02% or 45,333 people in USA |
45,333 |
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 |
approx 1 in 3,500 or 0.03% or 77,714 people in USA |
77,714 |
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 |
999,999 |
1 million people (unreliable estimate)
|
| Paralysis |
approx 1 in 111 or 0.90% or 2.4 million people in USA |
2,447,999 |
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 |
50,000 Americans (NHLBI)
|
| Dilated cardiomyopathy |
N/A |
N/A |
No information
|
| Hypertrophic cardiomyopathy |
approx 1 in 500 or 0.20% or 544,000 people in USA |
544,000 |
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 |
approx 1 in 250,000 or 0.00% or 1,087 people in USA |
5,000 |
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 |
approx 1 in 73 or 1.36% or 3.7 million people in USA |
3,699,999 |
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 |
approx 1 in 100,000 or 0.00% or 2,720 people in USA |
2,720 |
about 1 in 100,000 (NWHIC)
|
| Balo disease |
N/A |
N/A |
No information
|
| Chronic Fatigue Syndrome |
approx 1 in 544 or 0.18% or 500,000 people in USA |
499,999 |
500,000 Americans (CDC/NIAID)
|
| Post-polio syndrome |
N/A |
N/A |
No information
|
| Spastic paraparesis |
N/A |
N/A |
No information
|
| Multiple Sclerosis |
approx 1 in 700 or 0.14% or 388,571 people in USA |
388,571 |
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 |
approx 1 in 33,333 or 0.00% or 8,160 people in USA |
8,160 |
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 |
approx 1 in 1,813 or 0.06% or 150,000 people in USA |
150,000 |
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 |
approx 1 in 10 or 10.00% or 27.2 million people in USA |
27,200,000 |
10% of all cases of amyotrophic lateral sclerosis are familial, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis type 1 |
approx 1 in 33 or 3.00% or 8.2 million people in USA |
8,160,000 |
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 |
approx 1 in 100,000 or 0.00% or 2,720 people in USA |
2,720 |
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 |
approx 1 in 40,000 or 0.00% or 6,800 people in USA |
6,799 |
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 |
approx 1 in 20 or 5.00% or 13.6 million people in USA |
13,600,000 |
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 |
approx 1 in 10,000 or 0.01% or 27,200 people in USA |
27,199 |
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 |
approx 1 in 100,000 or 0.00% or 2,720 people in USA |
2,720 |
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 |
approx 1 in 100,000 or 0.00% or 2,720 people in USA |
2,720 |
less than 1 per 100,000 people are affected by paramyotonia congenital, Genetics Home Reference website
|
| $3-methylglutaconic aciduria, type 1$ |
approx 1 in 13,600,000 or 0.00% or 20 people in USA |
20 |
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 |
approx 1 in 400,000 or 0.00% or 680 people in USA |
680 |
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 |
approx 1 in 10,000 or 0.01% or 27,200 people in USA |
27,199 |
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 |
approx 1 in 200,000 or 0.00% or 1,360 people in USA |
1,360 |
1 per 200,000-500,000 newborns are affected by Cri-du-chat syndrome, Genetics Home Reference website
|
| Fragile-X Syndrome |
approx 1 in 16,000 or 0.01% or 17,000 people in USA |
90,666 |
approximately 1 per 8,000 females suffer from fragile X syndrome, Genetics Home Reference website
|
| Huntington's Disease |
approx 1 in 33,333 or 0.00% or 8,160 people in USA |
8,160 |
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 |
approx 1 in 10,000 or 0.01% or 27,200 people in USA |
27,199 |
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 |
approx 1 in 40,000 or 0.00% or 6,800 people in USA |
6,799 |
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 |
approx 1 in 120,000,000 or 0.00% or 2 people in USA |
2 |
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 |
approx 1 in 40,000 or 0.00% or 6,800 people in USA |
6,799 |
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 |
approx 1 in 50,000 or 0.00% or 5,440 people in USA |
5,440 |
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 |
approx 1 in 14,285 or 0.01% or 19,040 people in USA |
19,040 |
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 |
approx 1 in 100,000 or 0.00% or 2,720 people in USA |
2,720 |
1 per 100,000 people suffer from hypokalemic periodic paralysis, Genetics Home Reference website
|
| Hyperkalemic periodic paralysis |
approx 1 in 200,000 or 0.00% or 1,360 people in USA |
1,360 |
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 |
approx 1 in 2,000,000 or 0.00% or 135 people in USA |
135 |
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 |
approx 1 in 60,000,000 or 0.00% or 4 people in USA |
4 |
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
|
The medical term 'prevalence' of Muscle conditions usually refers to the estimated population
of people who are managing Muscle conditions at any given time,
whereas the annual diagnosis rate of new cases of Muscle conditions is called the 'incidence'.
For more information on prevalence and incidence statistics, see about prevalence and incidence statistics.
