autosomal recessive limb-girdle muscular dystrophy type 2G

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP).

Signs and symptoms

• Elevated circulating creatine kinase activity
• Proximal upper limb amyotrophy
• Gait disturbance
• Difficulty climbing stairs
• Muscular dystrophy
• Distal lower limb muscle weakness
• Calf muscle hypertrophy
• Increased connective tissue
• Difficulty running
• Foot dorsiflexor weakness

Also known as: LGMD2G; limb-girdle muscular dystrophy due to telethonin deficiency; muscular dystrophy, limb-girdle, type 2G