Charcot-Marie-Tooth Disease
Diagnosis

The doctor will start by conducting an extensive physical exam and history to check for any signs of CMT, such as foot deformities and muscle weakness. The doctor will also check for signs of nerve damage related to CMT or another hereditary neuropathy. You will be asked about your family history, and whether anyone else in your family has CMT or symptoms related to CMT.

If the doctor suspects your child has CMT, the following tests may also be recommended:

Electrodiagnostic Tests

This test consists of two parts: nerve conduction studies and electromyography (EMG). During nerve conduction studies, electrodes are placed on the skin over a peripheral motor or sensory nerve. These electrodes produce a small electric shock that may cause mild discomfort. This electrical impulse stimulates sensory and motor nerves.

EMG involves inserting a needle electrode through the skin to measure the bioelectrical activity of muscles and whether peripheral nerves have been damaged.

Genetic Testing

These tests, performed with a blood sample, are designed to detect the most common genetic defects known to cause CMT. In addition to helping confirm a diagnosis, genetic testing is available to parents who are concerned that they may pass CMT-causing genes on to their children.

Reviewed by health care specialists at UCSF Benioff Children's Hospital.

Related Information

UCSF Clinics & Centers

Pediatric Brain Center

Neuromuscular Clinic
1825 Fourth St., Sixth Floor
San Francisco, CA 94158
Phone: (415) 353-7596
Fax: (415) 353-2400
Appointment information