Charcot-Marie-Tooth (CMT) disease is a group of genetic disorders that affects movement and feeling in the limbs. The disease progresses slowly and causes damage to the peripheral nerves. These nerves control muscles and transmit sensation.
CMT is classified as follows:
CMT is caused by defects in genes that produce proteins involved in the structure and function of the nerve axon or the myelin sheath. The mutation is usually inherited. Some forms occur when only one copy of the abnormal gene is inherited while other forms occur when both copies are inherited. Some other forms are inherited due to an abnormal x-linked chromosome.
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Symptoms and symptom severity depend on the type of disease. Symptoms usually begin before age 20. The first sign of CMT is often a high arched foot or difficulty walking. Other symptoms may include:
You may be asked about your symptoms and medical history. A physical exam will be done.
You may have nerve and muscle functions tested. This can be done with:
Your doctor may need to test your DNA. This can be done with a blood test.
Although there is no cure for CMT, treatment may help to improve function, coordination, and mobility. Treatment is also vital to protect against injury due to muscle weakness and reduced sensation. Treatment may include:
National Institute of Neurological Disorders and Stroke
About Kids Health—The Hospital for Sick Children
Nave KA, Sereda MW, Ehrenreich H. Mechanisms of disease: Inherited demyelinating neuropathies—from basic to clinical research. Nat Clin Pract Neurol. 2007;3(8):453-464.
Pareyson D. Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Neurol Sci. 2004;25(2):72-82.
Reilly MM, Murphy SM, Laurá M. Charcot-Marie-Tooth disease. J Periph Nerv Syst. 2011;16(1):1-14.
Last reviewed June 2016 by Michael Woods, MD, FAAP
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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