Muscular Dystrophy

The Muscular Dystrophy (MD) topic includes research on the genetics, diagnosis, and treatment of MD, a group of hereditary, progressive degenerative disorders causing weakness of the skeletal or voluntary muscles. It includes research on Duchenne, Becker, limb-girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss MD.

There are more than 30 MD disorders, all of which cause progressive weakness and degeneration of muscles. Some types can compromise the heart, lungs, gastrointestinal system, eyes, brain, or other organs and systems. The progressive loss of muscle function can eventually affect breathing. Effects on the heart muscle can lead to cardiac failure.

MD in its various forms can affect anyone worldwide. Most are inherited and caused by genes, or changes to genes, that affect muscle proteins. Some are uninherited and caused by spontaneous mutations to those genes. Some MD forms compromise muscles’ protective proteins and leave the muscles at risk of damage. Other forms result from damage to the connective tissue, and others are caused by toxicity in the muscle fibers themselves.

MD treatments focus on maintaining muscle function as long as possible and include physical therapy, drugs, and surgery. Gene replacement therapy shows potential for restorative, and even curative, therapies in the future.