What is Multiminicore Myopathy

Multiminicore myopathy is a rare genetic muscle disorder that primarily affects skeletal muscles, which are responsible for voluntary movements. It is characterized by the presence of multiple small cores or lesions within muscle fibers, hence the name "multiminicore." These cores are areas of structural abnormalities and reduced oxidative enzyme activity.

Individuals with multiminicore myopathy often experience muscle weakness and decreased muscle tone, which can lead to difficulties with mobility and motor skills. The severity of symptoms can vary widely, ranging from mild muscle weakness to severe disability. In some cases, respiratory muscles may also be affected, resulting in breathing difficulties.

The condition is typically diagnosed through a combination of clinical evaluation, muscle biopsies, and genetic testing. While there is currently no cure for multiminicore myopathy, treatment focuses on managing symptoms and improving quality of life. This may involve physical therapy, assistive devices, respiratory support, and medications to alleviate pain and muscle stiffness.

As multiminicore myopathy is a genetic disorder, it is important for individuals and families affected by the condition to seek genetic counseling and consider genetic testing for family planning purposes.