Charcot-Marie-Tooth (CMT) disease is a group of genetic disorders that affects movement and sensation in the limbs. The disease progresses slowly and causes damage to the peripheral nerves that control muscles and transmit sensation.
CMT is caused by defects in specific genes (genetic mutations) often inherited in an autosomal dominant pattern. This means that for some forms of CMT, if one parent has CMT, each child has a 50% chance of inheriting the gene and the disease.
CMT can be classified in a number of ways:
Symptom onset and type vary depending on the type of CMT. 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, and perform a physical exam. Tests may include:
Although there is no cure for CMT, treatment may help to improve function, coordination, and mobility. Treatment is also essential to protect against injury due to muscle weakness and diminished sensation. Treatment may include:
RESOURCES:
Charcot-Marie-Tooth Association
http://www.charcot-marie-tooth.org/
National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov/
CANADIAN RESOURCES:
About Kids Health
http://www.aboutkidshealth.ca/
Health Canada
http://www.hc-sc.gc.ca/index-eng.php/
References:
Haratai Y, Bosch EP. Disorders of peripheral nerve. In: Bradley WG, ed. Neurology in Clinical Practice. 5th ed. Philadelphia, PA: Butterworth Heinemann Elsevier; 2008.
Muscular Dystrophy Association website. Available at: http://www.mdausa.org .
Nave KA, Sereda MW, Ehrenreich H. 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 October 3, 2008. Accessed February 4, 2009.
Last reviewed January 2009 by J. Thomas Megerian, MD, PhD, FAAP
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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