How is Muscular Dystrophy Diagnosed?

To diagnose muscular dystrophy a doctor will take a detailed history, perform a thorough physical examination, and conduct specific tests. Depending on the clinical features, the physician may test the blood for markers of muscle injury (creatinine kinase) or send blood testing for some specific genetic tests for specific forms of muscular dystrophy. In some cases, the clinician will recommend an electromyogram (EMG) or nerve conduction study, which measures the electrical activity of the muscles and nerves. If a diagnosis cannot be made based on the above tests, a muscle biopsy is often performed.

These tests usually give the diagnosis in about 80% of the patients. However, even with new tests approximately 15%-20% of patients will go undiagnosed.

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Centers for Disease Control