Miyoshi myopathy is a rare, inherited form of muscular dystrophy. It is caused by mutations in the DYSF gene, which is responsible for producing a protein called dysferlin. This protein is important for maintaining the integrity of muscle fibers. People with Miyoshi myopathy experience progressive muscle weakness and wasting, primarily in the lower legs and feet. Other symptoms may include difficulty walking, muscle cramps, and joint contractures.

The most common symptoms of Miyoshi myopathy include Muscle Weakness and wasting (atrophy) in the lower legs, hips, and shoulders. Other symptoms may include difficulty walking, climbing stairs, and rising from a seated position; difficulty with fine motor skills such as writing and buttoning; and muscle cramps and twitching. In some cases, Miyoshi myopathy can also cause cardiac and respiratory problems.

Miyoshi myopathy is an inherited disorder caused by mutations in the DYSF gene. This gene provides instructions for making a protein called dysferlin, which is found in muscle cells. Mutations in the DYSF gene lead to a shortage of dysferlin, which disrupts the normal function of muscle cells and causes muscle weakness and wasting.

The treatments for Miyoshi myopathy are supportive in nature and include physical therapy, occupational therapy, and orthopedic braces. Other treatments may include medications to reduce muscle spasms, dietary modifications, and assistive devices such as wheelchairs or walkers. In some cases, surgery may be recommended to correct joint deformities or to release tight muscles.

The primary risk factor for Miyoshi myopathy is having a family history of the disorder. Other risk factors include being of Japanese descent, being male, and having a mutation in the DYSF gene.

At this time, there is no cure for Miyoshi myopathy. Treatment focuses on managing symptoms and preventing complications. Medications may be prescribed to help manage muscle weakness, pain, and fatigue. Physical and occupational therapy may also be recommended to help maintain muscle strength and function.