X-linked myopathy with excessive autophagy

A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.

Signs and symptoms

• Proximal lower limb muscle weakness
• Skeletal muscle autophagosome accumulation
• Proximal lower limb amyotrophy
• Skeletal muscle atrophy
• Elevated circulating creatine kinase activity
• Myotonia
• Myopathy
• Difficulty climbing stairs
• Gowers sign
• Difficulty running

Also known as: XMEA