/central core myopathy

central core myopathy

Rare Disease

MONDO:0007294

Also Known As

central core diseaseCCDCcoShy-Magee syndromecentral CORE disease of muscleminicore myopathy, moderate, with hand involvementmulticore myopathy, moderate, with hand involvementmultiminicore disease, moderate, with hand involvementmuscle core diseasemuscular central core diseasemyopathy, central coremyopathy, central fibrillarneuromuscular disease, congenital, with uniform type 1 Fiberneuromuscular disease, congenital, with uniform type 1 Fibre

Definition

An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.