Conditions / Genetic

Miyoshi muscular dystrophy 3

info ยท Genetic

A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14.

Signs and symptoms

  • Elevated circulating creatine kinase activity
  • Distal lower limb muscle weakness
  • Quadriceps muscle atrophy
  • Difficulty climbing stairs
  • Difficulty running
  • Muscular dystrophy
  • Quadriceps muscle weakness
  • Calf muscle hypertrophy
  • Distal upper limb muscle weakness

Also known as: MMD3; Miyoshi myopathy 3