rippling muscle disease 2

A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Gowers sign
• Calf muscle hypertrophy
• Proximal muscle weakness
• Percussion-induced rapid rolling muscle contractions
• Muscle mounding
• Exercise-induced myalgia
• Skeletal muscle hypertrophy
• Muscle hyperirritability
• EMG abnormality

Also known as: autosomal dominant limb-girdle muscular dystrophy type 1C