Home > Encyclopedia of Neurological Disorders > Myofibrillar Myopathy

Definition

Myofibrillar myopathies (MFMs) are a group of skeletal muscle diseases that are frequently associated with involvement of the heart muscle. Myofibrillar myopathies can be hereditary or occur sporadically (spontaneously). The hallmark of myofibrillar disease is the abnormal accumulation of the protein desmin in the muscles, causing progressive weakness.

Description

The term myofibrillar myopathy was proposed in 1996 as a broad term for an abnormal pattern of muscle deterioration associated with the excess accumulation of multiple proteins that include desmin. Desmin, the main muscle intermediate fiber of the cytoskeleton (the fibrous network that provides structure for the cell), is a protein in cardiac, skeletal, and smooth muscles. This protein interacts with other proteins to form a network that maintains the structure...