Charcot-Marie-Tooth (CMT) disease is a group of genetic disorders that affects movement and feeling in the limbs. The disease progresses slowly and causes damage to the peripheral nerves. These nerves control muscles and transmit sensation.
CMT can be classified in a number of ways: Type I (demyelinating)—This type affects the coating of the nerve called the myelin sheath, causing nerve impulses to travel more slowly. It usually occurs in childhood or the teen years. It is the most common type of CMT.Type II (axonal)—This type affects the part of the nerve called the axons. Although the speed is normal, the size or amount of impulses is less than normal. This type of CMT is less common and occurs after the teen years.
Type III—Also called Dejerine-Sottas disease, this is a rare, severe, early onset form of CMT. It is sometimes considered to be a subtype of CMT Type I. Symptoms may include:
Delayed ability to walk due to weakness of the leg muscles closest to the trunkSevere sensory problemsHearing lossType IV (demyelinating autosomal recessive)—This is similar to Type I, but often less severe.
It is less likely to be inherited by an affected individual's children.
CMT is caused by defects in specific genes.
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The primary risk factor for developing CMT is having family members with this disease.
Usually, symptoms first appear in children and young adults. The first sign of CMT is often a high arched foot or difficulty walking. Other symptoms may include: Hammer toesHigh arched heelsDecreased sensation in the feet and legsMuscle cramping in legs and forearmsFlexed toesDifficulty holding the foot up in a horizontal position
ankle fracturesProblems with balanceMuscle weakness in the lower extremities—can spread to the upper extremities later in lifeReduced ability to detect hot and cold, vibration, and positionDifficulty writing, fastening buttons and zippers, and handling small objectsDelay in learning how to walk—Type III
The doctor will ask about your symptoms and medical history. A physical exam will be done.
You may have your nerve and muscle function tested. This can be done with: Nerve conduction studyElectromyogram (EMG)
Your doctor may need to test your DNA. This can be done with a blood test.
Although there is no cure for CMT, treatment may help to improve function, coordination, and mobility. Treatment is also vital to protect against injury due to muscle weakness and reduced sensation. Treatment may include: Physical and occupational therapyModerate exerciseBraces on the lower legsShoe inserts to correct foot deformityFoot care and routine exams with a foot specialistOrthopedic surgery
There are no known ways to prevent CMT. If you have CMT or have risk factors, you may want to talk to a genetic counselor before deciding to have children.
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Peroneal muscular atrophy. EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed/what.php. Updated Updated November 7, 2012. Accessed July 24, 2013.
Reilly MM, Murphy SM, et al. Charcot-Marie-Tooth disease.
J Periph Nerv Syst. 2011;16(1):1-14.
Last reviewed July 2013 by Kari Kassir, MD; Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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