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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Alexander Disease  
Canavan disease  
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
Cockayne syndrome +   
Compton-North congenital myopathy  
congenital fiber-type disproportion +   
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Congenital Myopathy with Excess of Muscle Spindles  
Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy  
Congenital Myopathy with Structured Cores and Z-Line Abnormalities  
Congenital Myopathy with Tremor  
Congenital Proximal Myopathy with Minicore Lesions  
cylindrical spirals myopathy 
Dystonia Musculorum Deformans +   
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
hyaline body myopathy +   
Kennedy's disease  
Lafora disease  
Leukoencephalomyelopathy  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Mental Retardation, X-Linked +   
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
myotonia congenita +   
Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.
myotonic dystrophy type 1 +   
myotonic dystrophy type 2  
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
paramyotonia congenita of Von Eulenburg  
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Congenital Myopathy with Scoliosis  
Progressive Psychomotor Deterioration  
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndromic microphthalmia 10 
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
Wilson disease +   

Synonyms
Exact Synonyms: Batten Turner congenital myopathy ;   Congenital Myotonia ;   Generalized Myotonia ;   Generalized Myotonias ;   myotonia levior
Primary IDs: MESH:D009224
Alternate IDs: OMIM:255300 ;   RDO:0002238
Xrefs: GARD:12301 ;   ICD9CM:359.22 ;   NCI:C84912 ;   ORDO:614
Definition Sources: MESH:D009224, http://rarediseases.org/rare-diseases/myotonia-congenita/ "DO", http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.