Diagnosis of Charcot-Marie-Tooth Disease

Electromyography is usually the first test performed to diagnose CMT disease. It measures the strength and speed of electrical signals down the peripheral nerves and the electrical activity in the muscles.

The most certain method of diagnosing CMT disease is a genetic test for the known disease-causing mutations. Patients suspected of having the disorder might meet with a genetic counselor to determine the best genetic test for them and get help interpreting the results.

Nerve conduction studies used as a diagnostic tool to detect the degeneration of axons or nerve fibers and the myelin sheath, the insulating material that surrounds nerve fibers. They are often used together with other tests to diagnose CMT.

A peripheral nerve biopsy may be performed to confirm a diagnosis of CMT when other tests can be inconclusive. Because the procedure is invasive, its necessity should be decided on a case-by-case basis.