(Hereditary Motor and Sensory Neuropathies; HMSNs)
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.
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.
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The risk of CMT is higher in people who have family members with it.
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
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.
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
There are no known guidelines to prevent this health problem.
- 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.
- Daniel A. Ostrovsky, MD
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