Charcot-Marie-Tooth Disease (CMT)

*Charcot-Marie-Tooth disease (CMT) facts

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*Charcot-Marie-Tooth disease (CMT) facts medically edited on June 22, 2015 by: Charles Patrick Davis, MD, PhD

  • Charcot-Marie-Tooth disease (CMT) is composed of types of inherited neurological disorders that affect peripheral nerves resulting in weakness in the musculature; the disease may get progressively worse over time.
  • Symptoms of Charcot-Marie-Tooth disease often begin in adolescence or early adulthood and may include difficulty with
    • walking,
    • swallowing,
    • breathing, and
    • loss of muscle bulk, especially in the lower legs.
  • The cause of Charcot-Marie-Tooth disease is inherited mutations in genes that produce proteins that are involved in the structure of peripheral nerve axons or their myelin sheaths (myelin insulates and protects nerve cells); infrequently, Charcot-Marie-Tooth disease can occur with spontaneous mutation of the person's gene.
  • There are many forms of CMT (for example, CMT 1-4, CMTX); these forms are related to the mutations in the genes that alter the peripheral nerves and/or their myelin sheaths.
  • Charcot-Marie-Tooth disease is diagnosed with the patient's medical history, family history, and neurological examination. The physical examination may reveal
    • muscle weakness,
    • decreased muscle bulk,
    • foot drop (inability to control position of the foot), and
    • foot deformities such as hammertoes high arches or inverted heels.
    • Other tests such as nerve conduction studies, nerve, biopsy electromyography and/or genetic testing also are available.
  • Charcot-Marie-Tooth disease has no cure but, individuals may be helped with exercise, stretching plus physical, and occupational therapy. Many patients may benefit from use of orthopedic items such as ankle braces and other items to give support so the patient maintains mobility.
  • Research is ongoing for Charcot-Marie-Tooth disease and includes gene therapy experiments, the use of nerve growth factors, vitamin C and the use of curcumin (a component of curry) in animal models of this disease
  • A list of government and private organizations that can provide more detailed information about Charcot-Marie-Tooth disease and research on Charcot-Marie-Tooth disease is provided in this article.

What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 - Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. Charcot-Marie-Tooth disease, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies.

Medically Reviewed by a Doctor on 2/23/2015

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