Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body.
HOW IS MYOFIBRILLAR MYOPATHIES DIAGNOSED?
The general physician will diagnose the condition based on a clinical evaluation. The doctor will ask for electromyography, nerve conduction studies and muscle biopsy. Molecular genetic testing is also required to confirm the diagnosis.
HOW IS MYOFIBRILLAR MYOPATHIES TREATED?
Treatment of Myofibrillar Myopathies aims at supporting weakened muscles. Implantation of mechanical device that regulates heart beat is one treatment method. Use of cardioverter defibrillator also helps regulate heart beat. If cardiomyopathy is progressive, heart transplant may be considered by general physicians
DID YOU KNOW?
Most individuals affected by Myofibrillar Myopathy, who maintain a healthy lifestyle and receive supportive care, could live well into adulthood. However, full life expectancy may not be achieved in the affected individuals.