congenital myopathy 28

info · Genetic

A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene on chromosome 5p12.

Signs and symptoms

Elevated circulating creatine kinase activity
Scoliosis
Fatty replacement of skeletal muscle
Reduced forced vital capacity
Rimmed vacuoles
Spinal rigidity
Scapular winging
Proximal muscle weakness
Distal muscle weakness
High palate

Also known as: congenital myopathy 28 with rigid spine