Tests and diagnosisBy Mayo Clinic Staff
Your doctor is likely to start with a medical history and physical examination.
After that, your doctor may recommend:
Nov. 27, 2014
- 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 — such as muscular dystrophy.
- 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.
- Genetic testing. Blood samples can be examined for mutations in some of the genes that cause different types of muscular dystrophy.
- Muscle biopsy. A small piece of muscle can be removed through an incision or with a hollow needle. Analysis (biopsy) 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.
- Darras BT. Clinical features and diagnosis of Duchenne and Beck muscular dystrophy. http://www.uptodate.com/home. Accessed Oct. 24, 2014.
- NINDS muscular dystrophy information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/md/md.htm. Accessed Oct. 23, 2014.
- Mercuri E, et al. Muscular dystrophies. The Lancet. 2013;381:845.
- Benditt JO, et al. Pulmonary issues in patients with chronic neuromuscular disease. American Journal of Respiratory and Critical Care Medicine. 2013;187:1046.
- Darras BT, et al. Myotonic dystrophy: Etiology, clinical features, and diagnosis. http://www.uptodate.com/home. Accessed Oct. 24, 2014.
- Darras BT. Treatment of Duchenne and Becker muscular dystrophy. http://www.uptodate.com/home. Accessed Oct. 23, 2014.
- AskMayoExpert. What physical and occupational therapy interventions are available for muscular dystrophy (MD)? Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2013.
- AskMayoExpert. Can braces or adaptive equipment help with muscular dystrophy? Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2013.
- Darras BT. Patient information: Overview of muscular dystrophies (beyond the basics). http://www.uptodate.com/home. Accessed Oct. 23, 2014.
- Selcen D (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 3, 2014.
- Abresch RT, et al. Exercise in neuromuscular diseases. Physical Medicine & Rehabilitation Clinics of North America. 2012;23:653.