Conditions / Genetic
Miyoshi muscular dystrophy 1
info · Genetic
A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Distal amyotrophy
- Difficulty climbing stairs
- Muscular dystrophy
- Distal muscle weakness
- Decreased Achilles reflex
- Muscle fibrillation
- Lower limb muscle weakness
- Decreased/absent ankle reflexes
- Tip-toe gait
Also known as: MMD1; Miyoshi myopathy 1