Autosomal recessive limb-girdle muscular dystrophy type 2Y

Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.

Also known as: LGMD2Y, TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1, autosomal recessive muscular dystrophy due to LAP1B deficiency, autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency, muscular dystrophy with progressive weakness, distal contractures and rigid spine, muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures

8 clinical trials for this condition and its sub-types, 1 tagged with Autosomal recessive limb-girdle muscular dystrophy type 2Y itself.