Myofibrillar Myopathy
What is Myofibrillar Myopathy?
The National Institute of Health maintains an overview of all rare diseases. Visit their page to begin learning about MFM. Myofibrillar myopathy (MFM) is a neuromuscular disease characterized by slowly progressive muscle weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those further away from the trunk)
Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the disease can appear anytime between infancy and late adulthood. MFM is caused by a genetic change in any of several genes, including DES, CRYAB, MYOT, LDB3, FLNC, BAG3, FHL1, TTN, and DNAJB6. The signs and symptoms of MFM can vary depending on the genetic cause.
When does it begin?
Symptoms
Resilience
Loss of strength, foot drop, difficulty climbing stairs are leading symptoms. An elevated CK blood test may be present. Sometimes heart or lung problems maybe the first sign.
We cannot help that the fact we have a bad gene but we can control how we live our lives. Spend your time improving your mind and maintaining your body to keep as fit as possible. Always do your best to stay positive.
Diagnoses at DNA & Microscopic level
Search for hope
We try to update this website with the latest information on treatments for MFM. Keep in mind these diseases are very rare therefore there is not much incentive for companies to look at our problem. Visit our Advocate page.
We are a group of people who have Myofibrillar Myopathy (MFM) - people from every country in the world who have lived with and searched for details about this disease for many years. This space is dedicated to collecting MFM information and current news along with helpful links and connections. This website is a spin off of the Facebook page Myofibrillar Myopathy. Check it out and mingle and ask questions of others dealing with MFM.