User:Mr. Ibrahem/Charcot–Marie–Tooth disease

Charcot–Marie–Tooth disease (CMT) is a group of disorders that affects peripheral nerves. Symptoms include gradual onset of muscle weakness starting in the legs and eventually involving the arms. Both sides are affected and loss of muscle mass occurs. Onset of symptoms is generally in a persons 10s or 20s. About 25% of people experience pain and some develop numbness.

It can occurs due to a number of different genetic mutations. Most commonly it is due to issues with PMP22 on chromosome 17. It can be autosomal dominant, X-linked, or autosomal recessive. It is classified as a hereditary motor and sensory neuropathy. Diagnosis may be supported by nerve conduction study, genetic testing, nerve biopsy, and nerve imaging.

Treatment is supportive care which may include physical therapy, orthotic devices, and exercise programs. Surgery may be done to improve foot, hip, or spine problems. While the disease does not generally affect life expectancy, people do worsen with time and it can affect activities of daily living.

Charcot–Marie–Tooth disease affecting about 1 in 2,500 people making it the most commonly inherited neuromuscular disorder. Males are more commonly affected than females. The condition was first described in 1886 by Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.