Charcot-Marie-Tooth disease

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Causes

By Mayo Clinic staff

Charcot-Marie-Tooth disease is a group of related conditions all caused by inherited mutations in genes involved with the structure and function of the nerves that serve your feet, legs, hands and arms.

In some cases, these genetic mutations result in damage to the nerve itself. Other mutations damage the myelin sheath, the protective coating that surrounds the nerve. The end result, however, is the same — weaker messages traveling between your extremities and your brain.

That means some of the muscles in your feet may not receive your brain's signal to contract, so you're more likely to trip and fall. And your brain may not receive pain messages from your feet, so if you've rubbed a blister on your toe, for example, it may get infected without your realizing it.

References
  1. Charcot-Marie-Tooth disease fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm. Accessed Jan. 10, 2013.
  2. Facts about Charcot-Marie-Tooth disease and related diseases. Muscular Dystrophy Association. http://www.mda.org/publications/facts-about-charcot-marie-tooth-related-diseases. Accessed Jan. 12, 2013.
  3. Aminoff MJ, et al. Clinical Neurology. 7th ed. New York, N.Y.: The McGraw-Hill Companies; 2009. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=66. Accessed Jan. 9, 2013.
  4. Patzko A, et al. Update on Charcot-Marie-Tooth disease. Current Neurology Neuroscience Report. 2011;11:78.
  5. Patzko A, et al. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum Lifelong Learning in Neurology. 2012;18:39.
DS00557 Feb. 14, 2013

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