Myofibrillar myopathies (MFM)

Myofibrillar myopathies (MFM)

Myofibrillar myopathies (MFM) are a group of rare genetic neuromuscular disorders that affect muscle function and cause weakness. They primarily affect skeletal muscles; the limb muscles close to the center of the body (proximal) as well as the muscle farther from the center of the body (distal). A weakening of the heart muscle (cardiomyopathy) is also common and may result in an irregular heartbeat (arrhythmia, conduction defects) or congestive heart failure. Myofibrillar myopathies are always progressive and muscle weakness worsens over time, however the rate of progression may vary from person to person and depending on the specific condition.

Types of Myofibrillar Myopathies

• Alpha-B crystallin related/MFM2
• BAG3 related Myopathy
• Desmin related/Desmin-related myopathy/ Desminopathy
• Filamin-C related/Filaminopathy/MFM5
• Myotillin related/Myotilinopathy/MFM3
• SEPN related/Desmin-related myopathy with Mallory bodies
• LDB3, ZASP related/Zaspopathy/MFM4
• Myopathy microfibrillar type 7/MFM7
• Spheroid body myopathy
• HSPB8 Myopathy