Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (pronunciation: shar-ko-muh-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
• Muscle atrophy
• Foot deformities such as high arches or flat feet
• Foot drop, a condition that makes it difficult to lift the front part of the foot
• Loss of sensation in the feet and legs

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

The diagnosis of Charcot-Marie-Tooth disease involves a neurological examination, nerve conduction studies, electromyography, and genetic testing. A nerve biopsy may also be performed.

Treatment

There is no cure for Charcot-Marie-Tooth disease. However, physical therapy, occupational therapy, braces and other orthopedic devices, and in some cases, surgery, can help to maintain mobility and function.

See also

• Peripheral neuropathy
• Muscular dystrophy
• Neuromuscular disease

External links

• Medical encyclopedia article on Charcot-Marie-Tooth disease
• Wikipedia's article - Charcot-Marie-Tooth disease

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