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autosomal dominant limb-girdle muscular dystrophy type 1H

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0013297:  autosomal dominant limb-girdle muscular dystrophy type 1H
GARD:0012532: 
Orphanet:238755: 
UMLS:C3150786: