Multiminicore Myopathy synonyms

Multiminicore myopathy, also known as multiminicore disease or MmD, is a rare genetic muscle disorder characterized by muscle weakness and wasting. It falls under the umbrella term of congenital myopathies, which are a group of inherited muscle disorders that manifest at birth or early childhood. Multiminicore myopathy is specifically characterized by the presence of multiple small cores or areas of structural abnormalities within muscle fibers, hence the name "multiminicore."

This condition primarily affects skeletal muscles, which are responsible for voluntary movements such as walking, running, and lifting objects. The muscle weakness associated with multiminicore myopathy can vary in severity, ranging from mild to severe. It often affects the muscles closest to the center of the body, such as those in the hips, thighs, and shoulders. As a result, individuals with multiminicore myopathy may experience difficulties with walking, climbing stairs, and performing tasks that require upper body strength.

Multiminicore myopathy is a genetically heterogeneous disorder, meaning it can be caused by mutations in different genes. The most commonly implicated gene is called SEPN1, which provides instructions for producing a protein involved in muscle function. However, mutations in other genes, such as RYR1 and TTN, have also been associated with this condition. The inheritance pattern of multiminicore myopathy can vary, with both autosomal recessive and autosomal dominant forms reported.

Although there is currently no cure for multiminicore myopathy, management strategies focus on alleviating symptoms and improving quality of life. This may involve a multidisciplinary approach, including physical therapy to maintain muscle strength and mobility, assistive devices to aid with mobility, and respiratory support if breathing difficulties arise. Regular monitoring by healthcare professionals is crucial to address any potential complications and provide appropriate care.

In summary, multiminicore myopathy is a rare genetic muscle disorder characterized by muscle weakness and the presence of multiple small cores within muscle fibers. It primarily affects skeletal muscles and can vary in severity. While there is no cure, management strategies aim to improve symptoms and enhance quality of life. If you suspect you or a loved one may have multiminicore myopathy, it is important to consult with a healthcare professional for a proper diagnosis and guidance.