Spotlight on Charcot-Marie Tooth

spotlight on CMT rare disease

Written by Dawn Veselka

April 1, 2021

5 Things to Know:

  • Causes nerve damage. Affects ability to walk.
  • Progressive muscle weakness.
  • Inherited. No cure.
  • Typically not life-threatening but causes disability.
  • Named for the doctors who discovered it. Not a dental disease.
Poster showing a body and all the symptoms of CMT as presented by the CMT association.
Poster with Overview of symptoms of CMT.

Charcot (shahr-KOH)-Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in your arms and legs (peripheral nerves). Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy.

Charcot-Marie-Tooth disease results in smaller, weaker muscles. You may also experience loss of sensation and muscle contractions, and difficulty walking. Foot deformities such as hammertoes and high arches also are common. Symptoms usually begin in your feet and legs, but they may eventually affect your hands and arms.

CMT is one of the most common inherited neurological disorders, affecting an estimated 126,000 individuals in the United States and 2.6 million people worldwide.  Nearly all cases are inherited.  It is possible to have two or more types of CMT, which happens when the person has mutations in two or more genes, each of which causes a form of the disease.  CMT is a heterogenous genetic disease, meaning mutations in different genes can produce similar clinical symptoms.  CMT is named for the three physicians who described it in 1886.

There is currently no cure for CMT but it can be managed with supportive therapy.  CMT isn’t usually life-threatening and rarely affects muscles involved in vital functions like breathing.  People with most forms of CMT have a normal life expectancy.

Here are some links to learn more:
CMTA USA 
NINDS / NIH
Mayo Clinic

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