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Charcot-Marie-Tooth Disease

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Charcot-Marie-Tooth Disease

(Hereditary Motor and Sensory Neuropathies; HMSNs)

Definition

Charcot-Marie-Tooth (CMT) disease is a group of inherited disorders. It harms the nerves that control movement and feeling in the arms and legs. The disease gets worse over time.

There are several different types of CMT. They can affect different parts of the nerves.

Causes

CMT is caused by one or more defective genes. In most people, the defective genes are inherited from one or both parents. Rarely, the gene defect can happen on its own (spontaneously). The spontaneous gene defect can still be passed down to children.

Nerve Cell.

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Risk Factors

The risk of CMT is higher in people who have family members with it.

Symptoms

The symptoms a person has depend on the type of CMT. Problems often start before age 30. The first sign is often a high arched foot or problems walking.

Other problems may be:

  • Flexed toes
  • A hard time holding the foot up in a horizontal position
  • Slapping the feet on the floor when walking
  • Muscle cramping and weakness in the legs—can spread to the arms later in life
  • Decreased feeling in the feet and legs
  • Problems with balance
  • Type 3 symptoms:
    • Babies who learn to walk late due to weakness of the leg muscles
    • Severe sensory problems
    • Problems hearing

Diagnosis

The doctor will ask about symptoms and past health. A physical exam will be done. This may be enough for the doctor to suspect CMT.

Nerve and muscle function tests can confirm the diagnosis. They can be done with:

Blood tests may be done to look for gene problems.

Treatment

There is no cure. Treatment may help to reduce symptoms. Options are:

  • Physical and occupational therapy—to improve movement
  • Braces on the lower legs—to help with walking
  • Shoe inserts to correct foot deformity
  • Foot care and routine exams with a foot specialist
  • Medicines to ease pain and tiredness
  • Surgery—tailored to the person's needs

Prevention

There are no known guidelines to prevent this health problem.

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Charcot-Marie-Tooth disease. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/charcot-marie-tooth-disease.
  • Charcot-Marie-Tooth disease. OrthoInfo—American Academy of Orthopaedic Surgeons website. Available at: https://orthoinfo.aaos.org/en/diseases--conditions/charcot-marie-tooth-disease.
  • Klein CJ. Charcot-Marie-Tooth disease and other hereditary neuropathies. Continuum (Minneap Minn). 2020;26(5):1224-1256.

Contributors

  • Daniel A. Ostrovsky, MD
Last Updated:
2022-09-01

(C) Copyright 2022 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.