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Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. It is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). In affected men, hormonal changes may lead to early balding and an inability to father a child (infertility).
HOW IS MYOTONIC DYSTROPHY DIAGNOSED?
A physical examination will usually reveal the typical pattern of muscle weakness and wasting and the presence of muscle stiffness (myotonia). Tests that may be done to confirm the diagnosis include a blood test, a muscle biopsy, and an electromyogram (EMG). The most precise diagnosis is made by analyzing the DNA in a blood sample as it will look for the specific genetic error that causes DM1 or DM2.
HOW IS MYOTONIC DYSTROPHY TREATED?
There is no cure for the condition. The treatment is focused at reducing the specific symptoms. Pacemaker may be inserted in individuals with cardiac conduction abnormalities.
DID YOU KNOW?
DM1 is a more commonly occurring form of myotonic dystrophy, even though it is a worse and more dangerous form of the same.