8C70.6
Congenital muscular dystrophy
Distrofia muscular congênita
CategoryDefinition
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.
Index Terms
Congenital muscular dystrophyhereditary muscular dystrophycongenital hereditary muscular dystrophycongenital progressive muscular dystrophyhereditary progressive muscular dystrophyCongenital muscular dystrophy with central nervous system abnormalitiesCongenital muscular dystrophy Fukuyama typeCongenital muscular dystrophy with central nervous system abnormalities, not elsewhere classifiedWalker Warburg syndromeHydrocephalus - agyria - retinal dysplasia syndromeWWS - [Walker Warburg syndrome]HARD - [Hydrocephalus - agyria - retinal dysplasia syndrome]Muscle Eye Brain diseaseMEB - [Muscle Eye Brain disease]Marinesco-Sjögren syndromeCongenital muscular dystrophy type 1C, fukutin-related protein gene mutationCongenital muscular dystrophy type 1D large gene mutationMDC1D - [congenital muscular dystrophy 1D]Congenital muscular dystrophy without central nervous system symptomsCongenital muscular dystrophy without central nervous system abnormalities, not elsewhere classifiedMerosin or laminin alpha 2 chain deficiencyMerosin-deficient congenital muscular dystrophyCollagen VI deficiencyBethlem myopathyUllrich congenital muscular dystrophyUCMD - [Ullrich congenital muscular dystrophyCongenital muscular dystrophy - infantile cataract - hypogonadismBassoe syndromeCongenital muscular dystrophy due to lamin A/C deficiencyCongenital muscular dystrophy due to phosphatidylcholine biosynthesis defectCongenital megaconial myopathyCongenital muscular dystrophy with mitochondrial structural abnormalitiesCongenital muscular dystrophy with integrin deficiencyCongenital muscular dystrophy, Paradas typeRigid spine syndromeCongenital muscular dystrophy type 1BMDC1B - [