How is distal muscular dystrophy diagnosed?

The first step in diagnosing muscular dystrophy is a physical exam that includes an analysis of your symptoms and a review of you and your family's medical histories. Then a doctor may perform one of several tests. Blood tests can check for levels of certain enzymes that indicate distal muscular dystrophy, and blood samples can also be used for DNA testing to diagnose certain forms of the disease. Muscle biopsy, which involves removing a small sample of muscle tissue to be analyzed under a microscope, can test for certain indicators of distal muscular dystrophies. In some cases, a doctor may use electromyography, which involves inserting a very thin electrode into your muscle to test electrical activity in your muscles. However, even with a battery of tests, diagnosis may be unclear. For some types of distal muscular dystrophy, little is known about its causes and symptoms, so they may be more difficult to diagnose.

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