Limb-girdle muscular dystrophy type 2H
Alternate names[edit | edit source]
Muscular dystrophy limb-girdle type 2H; Muscular dystrophy Hutterite type; LGMD2H; Sarcotubular myopathy
Definition[edit | edit source]
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.
NIH genetic and rare disease info[edit source]
Limb-girdle muscular dystrophy type 2H is a rare disease.
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