Muscular Dystrophy

In diagnosing any form of muscular dystrophy, doctors usually begin by taking a patient and family history and performing a physical examination. Occasionally, patients will undergo electromyography, a test that looks at the electrical activity of the muscles and nerves, to see where the problem lies.

Levels of creatine kinase (CK), an enzyme that leaks out of damaged muscle, are often evaluated with a blood test. When elevated CK levels are found, it usually means muscle is being destroyed by some abnormal process, such as a muscular dystrophy or inflammation. Therefore, a high CK level suggests that the muscles themselves are the likely cause of the weakness, but it doesn't determine what the muscle disorder might be.

Today, DNA testing for genetic flaws that are known to cause MD is available for many forms of the disease. If a particular type of MD is suspected, DNA testing, using a blood sample, may be performed relatively early in the diagnostic process. In some cases, the doctor must order a muscle biopsy, the surgical removal of a small sample of muscle from the patient.

Using a variety of techniques, muscular dystrophies can be distinguished from inflammatory and other disorders. Specific testing of the biopsy may also distinguish among different forms of muscular dystrophy. Genetic testing can then be performed to confirm a diagnosis.

Reviewed by health care specialists at UCSF Benioff Children's Hospital.

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