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Tests and diagnosis
By Mayo Clinic staffYour doctor may recommend the following tests, which can help provide information about the extent of your nerve damage and what may be causing it.
- Nerve conduction studies. These tests measure the strength and speed of electrical signals transmitted through your nerves. Electrodes are placed on your skin and deliver small electric shocks that stimulate the nerve. Delayed or weak responses may indicate a nerve disorder such as Charcot-Marie-Tooth disease.
- Electromyography (EMG). A thin needle electrode is inserted through your skin into the muscle to be tested. Electrical activity is measured as you relax and as you gently tighten the muscle. Your doctor may be able to determine the distribution of the disease by testing different muscles.
- Nerve biopsy. A small piece of peripheral nerve is taken from the calf of your leg through an incision in your skin. Laboratory analysis of the nerve distinguishes Charcot-Marie-Tooth disease from other nerve disorders.
- Genetic testing. These tests, which can detect the most common genetic defects known to cause Charcot-Marie-Tooth disease, are done by blood sample. Genetic testing may give people with the disorder more information for family planning.
References
- Charcot-Marie-Tooth disease fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm?css=print. Accessed May 19, 2010.
- Facts about Charcot-Marie-Tooth disease and related diseases. Muscular Dystrophy Association. http://www.mda.org/publications/PDFs/FA-CMT.pdf. Accessed May 19, 2010.
- Inherited neuropathies. In: Fauci AS, et al. Harrison's Principles of Internal Medicine. 17th ed. New York, N.Y.: The McGraw-Hill Companies. http://www.accessmedicine.com/popup.aspx?aID=2907233&print=yes. Accessed May 20, 2010.
- Cruse RP. Hereditary primary motor sensory neuropathies, including Charcot-Marie-Tooth disease. http://uptodate.com/home/index.html. Accessed May 21, 2010.
- Treatment and management of CMT. Charcot-Marie-Tooth Association. http://www.charcot-marie-tooth.org/about_cmt/prn_treatment.php. Accessed May 20, 2010.
- Klein CJ (expert opinion). Mayo Clinic, Rochester, Minn. May 23, 2010.
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