Muscular dystrophy

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Tests and diagnosis

By Mayo Clinic staff

In addition to a medical history review and physical examination, your doctor may suggest some of the following tests:

  • Enzyme tests. Damaged muscles release enzymes, such as creatine kinase (CK), into your blood. In the absence of traumatic injuries, high blood levels of CK suggest a muscle disease — such as muscular dystrophy.
  • Electromyography. This test involves inserting an electrode needle through your skin and 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.
  • Muscle biopsy. A small piece of muscle can be removed through a small incision or with a hollow needle. The analysis of the sample can distinguish muscular dystrophies from other muscle diseases.
  • Genetic testing. Blood samples can be examined for mutations in some of the genes that cause different types of muscular dystrophy.
Treatments and drugs Preparing for your appointment
References
  1. Muscular dystrophy: Hope through research. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/md/detail_md.htm. Accessed Nov. 2, 2011.
  2. Amato AA, et al. Muscular dystrophies and other muscle diseases: Hereditary myopathies. Longo DL, et al. Harrison's Online. 18th ed. New York, N.Y.: The McGraw-Hill Companies; 2012. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4. Accessed Nov. 2, 2011.
  3. Chinnery PF. Muscle diseases: Muscular dystrophies. In: Goldman L, et al. Cecil Medicine. 24th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/191371208-2/0/1492/0.html#. Accessed Nov. 2, 2011.
  4. Amato AA, et al. Disorders of skeletal muscle. In: Bradley WG, et al. Neurology in Clinical Practice. 5th ed. Philadelphia, Pa.: Butterworth-Heinemann Elsevier; 2008. http://www.mdconsult.com/books/about.do?about=true&eid=4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&isbn=978-0-7506-7525-3&uniqId=230100505-57. Accessed Nov. 3, 2011.
  5. Darras BT. Patient information: Overview of muscular dystrophies. http://uptodate.com/home/index.html. Accessed Nov. 4, 2011.
  6. Kohler M, et al. Disability and survival in Duchenne muscular dystrophy. Journal of Neurology, Neurosurgery and Psychiatry. 2009;80:320.
  7. Ishikawa Y, et al. Duchenne muscular dystrophy: Survival by cardio-respiratory interventions. Neuromuscular Disorders. 2001;21:47.
  8. Harrison T. Muscular dystrophy. In: Ferri FF. Ferri's Clinical Advisor 2011: Instant Diagnosis and Treatment. Philadelphia, Pa.: Mosby Elsevier; 2011. http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-0-323-05610-6..C2009-0-38600-6--TOP&isbn=978-0-323-05610-6&about=true&uniqId=230100505-53. Accessed Nov. 4, 2011.
  9. Carter GT, et al. Aging with muscular dystrophy: Pathophysiology and clinical management. Physical Medicine & Rehabilitation Clinics of North America. 2010;21:429.
  10. Darras BT. Treatment of Duchenne and Becker muscular dystrophy. http://www.uptodate.com/home/index/html. Accessed Nov. 4, 2011.
  11. Borg K, et al. Myopathies. In: Frontera WR, et al. Essentials of Physical Medicine and Rehabilitation: Musculoskeletal Disorders, Pain, and Rehabilitation. 2nd ed. Philadelphia, Pa.: Saunders Elsevier; 2008. http://www.mdconsult.com/das/book/body/208746819-6/0/1678/0.html. Accessed Nov. 4, 2011.
  12. Darras BT, et al. Myotonic dystrophy: Prognosis and management. http://www.uptodate.com/home/index.html. Accessed Nov. 4, 2011.
  13. Bushby K, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management. The Lancet Neurology. 2010;1:77.
  14. Bushby K, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: Implementation of multidisciplinary care. The Lancet Neurology. 2010;2:177.
  15. Selcen D (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 13, 2011.
DS00200 Jan. 18, 2012

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