Diagnosis of Charcot-Marie-Tooth disease

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After examination of the physical symptoms, a doctor may suggest a Nerve Conduction Velocity (NCV) test. The NCV test measures the speed of the nerve impulses: In CMT1 the speed will be slower than usual, while CMT2 patients will show other abnormalities such as smaller or less nerve impulses.

Another test called an electromyogram (EMG) may also be carried out to record electrical activity of the muscle cells.

In families with a strong history of CMT1a, prenatal diagnosis may be available.

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