/autosomal recessive limb-girdle muscular dystrophy type 2W

autosomal recessive limb-girdle muscular dystrophy type 2W

Rare Disease

MONDO:0014788

Also Known As

LGMD2WLIMS2 autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tonguemuscular dystrophy, limb-girdle, type 2Wmuscular dystrophy, limb-girdle, type 2w

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.