Description
Myotonic dystrophy (DM), also called dystrophia myotonica, myotonia atrophica, or Steinert disease, is a common form of muscular dystrophy. DM is an inherited disease, affecting both males and females. About 30,000 people in the United States are affected. Symptoms may appear at any time from infancy to adulthood. DM causes general weakness, usually beginning in the muscles of the hands, feet, neck, or face. It slowly progresses to involve other muscle groups, including the heart. DM affects a wide variety of other organ systems as well.
People with myotonic dystrophy, like those with other dystrophies, experience muscle weakness and wasting which is usually progressive. There are many differences, though, in the type of problem that people with myotonic dystrophy may have. These may include the following:
Types of muscles involved are usually in the face, jaw and neck area; the large, weight-bearing muscles of the legs and thighs are much less affected.
Rate of deterioration is commonly slow, with little change over a long period; some people never have significant muscle disability.
Muscle stiffness or 'myotonia' is characteristic, especially affecting the hands.
Involvement of other body systems is frequent; associated problems may include cataracts, disturbance of heart rhythm, hormonal problems and, in children, learning difficulties.
Age at onset is very variable. Symptoms may appear at any time from birth to old age.
Written by Professor Peter S Harper, University of Wales College of Medicine, Cardiff for the Muscular Dystrophy Campaign
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