Diagnosis

Your doctor is likely to start with a medical history and physical examination.

After that, your doctor might recommend:

• Enzyme tests. Damaged muscles release enzymes, such as creatine kinase (CK), into your blood. In a person who hasn't had a traumatic injury, high blood levels of CK suggest a muscle disease.
• Genetic testing. Blood samples can be examined for mutations in some of the genes that cause types of muscular dystrophy.
• Muscle biopsy. A small piece of muscle can be removed through an incision or with a hollow needle. Analysis of the tissue sample can distinguish muscular dystrophies from other muscle diseases.
• Heart-monitoring tests (electrocardiography and echocardiogram). These tests are used to check heart function, especially in people diagnosed with myotonic muscular dystrophy.
• Lung-monitoring tests. These tests are used to check lung function.
• Electromyography. An electrode needle is inserted into the muscle to be tested. Electrical activity is measured as you relax and as you gently tighten the muscle. Changes in the pattern of electrical activity can confirm a muscle disease.