What is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease, or CMT, is a disease involving the peripheral nerves that branch out from the brain and spinal cord to other parts of the body, including the arms, hands, legs and feet.

Typically, the brain and nerves are constantly communicating with each other. But with CMT, the motor nerves (the nerves that control our muscles) and sensory nerves (the nerves that carry sensory information like pain and temperature to the brain) don’t work properly. They have trouble sending signals to and from the brain. This results in numbness and muscle weakness. Over time, the muscles weaken and deteriorate.

Symptoms may begin as early as birth or during adulthood, and they become gradually worse over time. There are currently no treatments or cures for CMT.

Charcot-Marie-Tooth (CMT) is a progressive nerve disease named after the three doctors who discovered it in 1886: Jean-Marie Charcot, Pierre Marie and Howard Henry Tooth.

There is currently no cure for CMT.

Nearly 3 million people are living with CMT worldwide.

CMT affects people of every gender, race and ethnicity.

CMT affects men and women of all ages, races and ethnicities.

CMT affects 1 in 2,500 people in the United States. Worldwide, there are nearly three million people living with CMT.


What causes CMT?

CMT is caused by genetic mutations. The type of CMT you have is determined by which gene is affected. There are more than 100 known genetic mutations that cause CMT, but most people have one of four most common types of CMT.

The mutation is always hereditary, meaning it can be passed down from a parent to their child. The mutations originate in families by appearing spontaneously while DNA is forming in a child. Once there is a spontaneous mutation it can then be inherited by future children. CMT is something you are born with — it is not caused by anything you do and it is not contagious.


Everything You Need to Know in Five Minutes

Want to better understand CMT, the peripheral nervous system, CMT genetics and therapy development (in language you can actually understand)? Watch these three CMT 101 videos from research expert Dr. Grace Pavlath.