Myofibrillar myopathy (MFM) is a genetically inherited neuromuscular condition that belongs to a class of diseases known as muscular dystrophies. These conditions alter muscle function and eventually weaken them. The most impacted group of muscles are skeletal muscles though cardiac muscle can be impacted occasionally as well.
The symptoms and indicators of the disease vary between those affected. It starts to appear in patients around their mid-adult years but symptoms can develop between childhood to late age. Muscles frequently begin to deteriorate starting in the hands and feet or the muscles close to the body’s center. Overtime, the weakness spreads and gets worse. Difficult speaking and swallowing may also occur due to facial muscle paralysis.
MFM can also turn into cardiomyopathy which weakens the heart muscle and that causes discomfort, neuropathy (damage to peripheral nerves), and eventually respiratory failure. The exact genetic reason behind this disease is unknown in most cases although muscle biopsies and other tests can be used to diagnose the disease. Genetic testing is the most common way to confirm diagnosis.
Sources:
https://medlineplus.gov/genetics/condition/myofibrillar-myopathy/#:~:text=Myofibrillar%20myopathy%20is%20part%20of,cardiac)%20muscle%20is%20also%20affected
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