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Charcot-Marie-Tooth Disease

(Hereditary Motor and Sensory Neuropathies; HMSNs)

Definition

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:

Causes

CMT is caused by defects in specific genes.
Nerve Cell
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Risk Factors

The primary risk factor for developing CMT is having family members with this disease.

Symptoms

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:

Diagnosis

The doctor will ask about your symptoms and medical history. A physical exam will be done.
You may have nerve and muscle functions tested. This can be done with:
Your doctor may need to test your DNA. This can be done with a blood test.

Treatment

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:

Prevention

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.

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—The Hospital for Sick Children http://www.aboutkidshealth.ca

Health Canada http://www.hc-sc.gc.ca

References

Nave KA, Sereda MW, Ehrenreich H. Mechanisms of disease: Inherited demyelinating neuropathies—from basic to clinical research. Nat Clin Pract Neurol. 2007;3(8):453-464.

Pareyson D. Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Neurol Sci. 2004;25(2):72-82.

Peroneal muscular atrophy. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated Updated November 7, 2012. Accessed July 24, 2013.

Reilly MM, Murphy SM, Laurá M. Charcot-Marie-Tooth disease. J Periph Nerv Syst. 2011;16(1):1-14.

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