Charcot Marie Tooth disease
Charcot Marie Tooth disease
Charcot Marie Tooth disease (pronounced shar-ko-mah-ree-tooth) is a group of inherited disorders that affect the peripheral nerves, which are the nerves outside the brain and spinal cord.
Etymology
The disease is named after the three doctors who first identified it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.
Definition
Charcot Marie Tooth disease is characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. It is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States.
Symptoms
Symptoms of Charcot Marie Tooth disease typically begin in adolescence or early adulthood and may include weakness of the foot and lower leg muscles, foot drop, foot deformities such as high arches and hammer toes, difficulty with balance, occasional loss of muscle bulk in the legs and feet, numbness in the feet, and in some cases, hand weakness and sensory loss.
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.
Diagnosis
Diagnosis of Charcot Marie Tooth disease begins with a neurological examination, and the diagnosis can be confirmed with nerve conduction studies and genetic testing.
Treatment
There is currently no cure for Charcot Marie Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, and in some cases, surgery, can help patients cope with the disability that results from the disease.
Related Terms
- Peripheral Nerves
- High Arches
- Hammertoe
- Myelin
- Neurological Examination
- Nerve Conduction Studies
- Genetic Testing
External links
- Medical encyclopedia article on Charcot Marie Tooth disease
- Wikipedia's article - Charcot Marie Tooth disease
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