Charcot-Marie-Tooth disease other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Other Diagnostic Studies

The diagnosis is established by electromyography examination (which shows that the velocity of nerve impulse conduction is decreased and the time required to charge the nerve is increased) and nerve biopsy. Genetic markers have been identified for some, but not all forms of the disease.

Genetic testing

Genetic testing is available for many of the different types of Charcot-Marie-Tooth. For a listing of test availabilities, see GeneTests.org