Miyoshi Myopathy
Miyoshi Myopathy is a rare, autosomal recessive muscular dystrophy characterized by progressive weakness and atrophy primarily affecting the distal muscles of the lower limbs, such as the gastrocnemius and soleus. Onset typically occurs in young adulthood, leading to difficulty with activities like tiptoeing or climbing stairs. It is caused by mutations in the DYSF gene, encoding dysferlin, a protein crucial for sarcolemma repair. Diagnosis involves clinical findings, elevated creatine kinase, electromyography, and genetic testing.
