Miyoshi myopathy [Supplementary Concept]
An autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness and atrophy affecting the upper and lower limbs but sparing the intrinsic hand muscles. The SKELETAL MUSCLES are particularly affected and progression can involve the thigh and gluteal muscles. Patients have difficulty walking, but usually remain ambulatory. Serum CREATINE KINASE is increased and muscle biopsies show myopathic and dystrophic changes with NECROSIS. Mutations in the DYSF gene have been identified. OMIM: 254130
Date introduced: August 25, 2010
MeSH Unique ID: C537480
Heading Mapped to:
Entry Terms:
- Miyoshi distal myopathy
- Miyoshi myopathy 1
- Miyoshi Muscular Dystrophy 1
- Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive
- Muscular dystrophy, distal, late onset, autosomal recessive
- mmd1 myopathy