/autosomal recessive limb-girdle muscular dystrophy type 2H

autosomal recessive limb-girdle muscular dystrophy type 2H

Rare Disease

MONDO:0009683

Also Known As

LGMD2HSarcotubular myopathyTRIM32 autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32autosomal recessive limb-girdle muscular dystrophy type 2Hlimb-girdle muscular dystrophy due to TRIM32 deficiencymuscular dystrophy Hutterite typemuscular dystrophy, limb-girdle, autosomal recessive 8sarcotubular myopathylimb-girdle muscular dystrophy type 2Hmuscular dystrophy limb-girdle type 2Hmuscular dystrophy, Hutterite typemuscular dystrophy, limb-girdle, type 2H

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.