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What is Charcot-Marie-Tooth (CMT)?

Charcot-Marie-Tooth (shar-ko¯’ mä-re´ tooth) or CMT is one of the most common heritable neuromuscular diseases, affecting one in 2,500 people worldwide.

CMT affects the long peripheral nerves that control the muscles (unlike the muscular dystrophies, which affect the muscles themselves).

CMT is found in both genders and in all races and ethnic groups and affects more than 3 million people worldwide. Although CMT is typically inherited from one’s parents, it can also develop as a result of a new or spontaneous mutation. People who have these “de novo” mutations can then pass the condition on to their children.

Usually slowly progressive, causing loss of normal function and/or sensation in the feet/legs and hands/arms.

Currently incurable, but not usually fatal, CMT can be severely disabling in some people.

Dr. Glenn Pfeffer, orthopedic surgeon at Cedars-Sinai, created a  3-D video of a pes cavus CMT foot.

What are the Symptoms of CMT?

First signs may include toe-walking, frequent tripping, ankle sprains, clumsiness and “burning” or pins-and-needles sensations in the feet or hands.

Structural foot deformities such as high arches and hammertoes are common, but some people present with flat feet.

Foot drop, poor balance and other gait problems that develop as muscle wasting in the lower legs and feet progresses.

Difficulty with tasks involving manual dexterity, such as writing and manipulating zippers and buttons, often accompanies muscular atrophy in the hands.

Abnormal sensation in the extremities and the loss of proprioception or the inability to sense where one’s body is in space are also common, and many people experience neuropathic, muscle or joint pain.

Poor tolerance for cool or cold temperatures is typical, and many people have chronically cold hands and feet.

Additional symptoms may include contractures, tremor, knee or hip dislocation, cramps, thenar muscle atrophy (weakness of the muscles between the thumb and forefinger), chronic fatigue, sleep apnea, breathing difficulties, swallowing difficulties, absent or reduced reflexes, poor circulation, scoliosis, kyphosis and hearing loss.

Other CMT Facts:

*CMT affects about 3 million people worldwide. MS affects 2.5 million *people worldwide. We’ve all heard about MS but few know about CMT. 

*CMT is the most common disease no one has ever heard of.

*There are no known treatments that will stop or slow down the progression of CMT, but the CMTA is funding research to find these treatments through STAR (Strategy to Accelerate Research). 

*To learn more about STAR, go to:  https://www.cmtausa.org/research/our-star-strategy/

Reference

For additional information please visit CMTA USA

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