autosomal dominant limb-girdle muscular dystrophy type 1H https://www.malacards.org/card/muscular_dystrophy_limb_girdle_type_1h DOID:0110303 LGMD1H OMIM:613530 limb-girdle muscular dystrophy type 1H Orphanet:238755 Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle. muscular dystrophy, limb-girdle, type 1H UMLS:C3150786 MEDGEN:462136 MONDO:0013297 GARD:0012532 muscular dystrophy, limb-girdle, autosomal dominant