autosomal recessive limb-girdle muscular dystrophy type 2Y

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.

Signs and symptoms

• Centrally nucleated skeletal muscle fibers
• Decreased forced expiratory flow 25-75%
• Increased endomysial connective tissue
• Muscle weakness
• Increased variability in muscle fiber diameter
• Elevated circulating creatine kinase activity
• Camptodactyly of finger
• Difficulty climbing stairs
• Distal muscle weakness
• Muscular dystrophy

Also known as: LGMD2Y; 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, limb-girdle, type 2Y