Autosomal recessive limb-girdle muscular dystrophy type 2W
Autosomal recessive limb-girdle muscular dystrophy 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.
Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2, LGMD2W, LIMS2 autosomal recessive limb-girdle muscular dystrophy, muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, muscular dystrophy, limb-girdle, type 2W — per MONDO