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Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (pronounced shar-ko-mah-ree-tooth) is a group of inherited disorders that cause nerve damage. This damage is mostly in the arms and legs (peripheral nerves). Charcot-Marie-Tooth is also called hereditary motor and sensory neuropathy.

Etymology

Charcot-Marie-Tooth disease is named after the three doctors who first described it in 1886 - Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom.

Symptoms

Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood and may include:

Muscle weakness in the feet, ankles, and legs
Foot deformities such as high arches or flat feet
Difficulty lifting the foot at the ankle (foot drop)
Numbness in the feet or legs
Muscle atrophy
Difficulty with balance

Causes

Charcot-Marie-Tooth disease is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different forms of Charcot-Marie-Tooth disease, all the mutations affect the normal function of the peripheral nerves.

Diagnosis

Diagnosis of Charcot-Marie-Tooth disease begins with a neurological examination, a review of the person's family history, and electromyography. Genetic testing can also be used to identify the disease.

Treatment

There is no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, and sometimes surgery can help to manage the symptoms.

Related terms

External links

Medical encyclopedia article on Char
Wikipedia's article - Char

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