Health

Muscular dystrophy is a term used to describe one category of a broad group of muscle diseases (myopathies). These diseases commonly result in muscle weakness, muscle wasting (atrophy), and decreased muscle function. These diseases are progressive and persons with muscular dystrophy get worse over time; some specific muscular dystrophies typically progress faster than others. Through genetic testing, we are now better able to identify specific muscle dystrophies to enable improved care planning; this also allows better counseling to patients and families about risks of transmission to their children. Not all muscular dystrophies can be identified by genetic testing.

Some of the more common types of muscular dystrophy include Duchenne’s muscular dystrophy (DMD), Becker’s muscular dystrophy (BMD), congenital muscular dystrophy, various limb girdle dystrophies, and myotonic muscular dystrophy (MMD). There are many rarer muscle diseases known as congenital myopathies that cause similar muscle problems, usually starting in early infancy. These include central core disease, fiber type disproportion, centronuclear myotubular myopathy, nemaline rod myopathy, minicore disease, and minimal change myopathy. There are also myopathies caused by enzyme deficiencies such as McArdle’s or Pompe’s disease. The specifics of these diseases are outside the scope of this discussion, but readers are encouraged to look at the links listed below for further information.