autosomal recessive limb-girdle muscular dystrophy type 2D

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Scapular winging
• Gowers sign
• Increased endomysial connective tissue
• Calf muscle hypertrophy
• Congestive heart failure
• Cardiomyopathy
• Ankle flexion contracture
• Proximal muscle weakness
• Muscle fiber necrosis

Also known as: Alpha-sarcoglycanopathy; DMDA2; Duchenne-like autosomal recessive muscular dystrophy type 2; LGMD2D; muscular dystrophy, limb-girdle, type 2D