Myotonic Dystrophy

The Myotonic Dystrophy topic includes research on the genetics, diagnosis, and treatment of myotonic dystrophy, an adult-onset muscular dystrophy.

The two types of myotonic dystrophy are caused by mutations in two different genes. Type 1 is the most common type around the world. Type 2 is a milder form of the disease and is more common in those with German ancestry.

Myotonic dystrophy causes muscle weakness and wasting, usually beginning in a person’s 20s or 30s. In addition, the disease causes muscle stiffness and tightness—myotonia—as the muscle relaxation is delayed after use. This might, for example, mean a person cannot release a doorknob after gripping it. In addition, people with myotonic dystrophy may have cataracts or irregular heartbeats. Men may experience infertility. Type 1 also frequently causes gastrointestinal symptoms.

Treatment of myotonic dystrophy focuses on movement support, such as leg or ankle braces. Some medications can help, and cataracts, for instance, can be removed.