DYSF (Dysferlin) and Associated Muscular Dystrophies

DYSF (Dysferlin)

Dysferlin is a protein associated with Miyoshi Myopathy and Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B). Dysferlin plays a crucial role in muscle membrane repair and regeneration.

Mutations in the DYSF gene lead to deficiencies in dysferlin, resulting in impaired membrane repair mechanisms and progressive muscle degeneration. Individuals with dysferlinopathies, including Miyoshi Myopathy and LGMD2B, typically experience weakness in the proximal muscles, particularly in the shoulder and pelvic girdle regions.

Miyoshi Myopathy

Miyoshi Myopathy is a type of muscular dystrophy that primarily affects the distal muscles, specifically those in the calves and thighs. It is caused by mutations in the DYSF gene, leading to a deficiency in dysferlin, a protein crucial for muscle membrane repair.

Individuals with Miyoshi Myopathy typically experience progressive muscle weakness and atrophy in the lower limbs, leading to difficulty with activities requiring ankle and toe movements. The age of onset is usually in late adolescence or early adulthood. While the rate of progression varies, Miyoshi Myopathy is generally characterized by a gradual decline in muscle function.

While there is currently no cure for dysferlinopathies, management includes supportive care and physical therapy to maintain mobility and function.