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:
CMT is caused by defects in specific genes.
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:
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:
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:
National Institute of Neurological Disorders and Stroke
About Kids Health
Nave KA, Sereda MW, et al. Mechanisms of disease: inherited demyelinating neuropathies—from basic to clinical research. Nat Clin Pract Neurol. 2007;3:453-464.
Pareyson D. Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Neurol Sci. 2004;25:72-82.
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.