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8C70.6 category

Congenital muscular dystrophy

Definition

Congenital muscular dystrophies with central nervous system abnormalities are a heterogeneous group of autosomal recessively inherited degenerative muscle disorders associated with cerebral and cerebellar dysplasia, white matter abnormalities and ocular abnormalities in some subtypes.

Also indexed as

Bassoe syndromeBethlem myopathyCMD1B - [Congenital muscular dystrophy type 1B]Collagen VI deficiencyCongenital megaconial myopathyCongenital muscular dystrophyCongenital muscular dystrophy - infantile cataract - hypogonadismCongenital muscular dystrophy Fukuyama typeCongenital muscular dystrophy due to lamin A/C deficiencyCongenital muscular dystrophy due to phosphatidylcholine biosynthesis defectCongenital muscular dystrophy type 1BCongenital muscular dystrophy type 1C, fukutin-related protein gene mutationCongenital muscular dystrophy type 1D large gene mutationCongenital muscular dystrophy with central nervous system abnormalitiesCongenital muscular dystrophy with central nervous system abnormalities, not elsewhere classifiedCongenital muscular dystrophy with integrin deficiencyCongenital muscular dystrophy with mitochondrial structural abnormalitiesCongenital muscular dystrophy without central nervous system abnormalities, not elsewhere classifiedCongenital muscular dystrophy without central nervous system symptomsCongenital muscular dystrophy, Paradas typeHARD - [Hydrocephalus - agyria - retinal dysplasia syndrome]Hydrocephalus - agyria - retinal dysplasia syndromeMDC1B - [Muscular Dystrophy Type 1B]MDC1D - [congenital muscular dystrophy 1D]MEB - [Muscle Eye Brain disease]Marinesco-Sjögren syndromeMerosin or laminin alpha 2 chain deficiencyMerosin-deficient congenital muscular dystrophyMuscle Eye Brain diseaseRigid spine syndromeUCMD - [Ullrich congenital muscular dystrophyUllrich congenital muscular dystrophyWWS - [Walker Warburg syndrome]Walker Warburg syndromecongenital hereditary muscular dystrophycongenital progressive muscular dystrophyhereditary muscular dystrophyhereditary progressive muscular dystrophy

Nearby in Muscular dystrophy