Autosomal dominant limb-girdle muscular dystrophy type 1H

MONDO:0013297

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.

Also known as: LGMD1H, limb-girdle muscular dystrophy type 1H, muscular dystrophy, limb-girdle, type 1H

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