Charcot (shahr-KOH)-Marie-Tooth disease, also known as hereditary motor and sensory neuropathy, is a group of hereditary disorders that affects the nerves in your arms and legs. The disease predominantly causes muscle weakness and decreased muscle bulk with typically limited decreased sensation. With Charcot-Marie-Tooth disease, symptoms may vary widely in severity, even among family members, but tend to slowly worsen over time.
Charcot-Marie-Tooth symptoms usually begin in your feet and legs, but may also eventually affect your hands and arms. Foot deformities such as hammertoes and high arches are common in Charcot-Marie-Tooth disease. Muscle weakness and loss of balance can make walking difficult. Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood, but late onset also occurs.
Signs and symptoms of Charcot-Marie-Tooth disease may include:
As Charcot-Marie-Tooth disease progresses, symptoms may not be limited to the feet and legs but may also involve the thighs, hands and arms. Charcot-Marie-Tooth disease generally doesn't cause pain.
Charcot-Marie-Tooth disease is a group of related conditions all caused by inherited mutations in genes involved with the structure and function of the nerves that serve your feet, legs, hands and arms.
In some cases, these genetic mutations result in damage to the nerve itself. Other mutations damage the myelin sheath, the protective coating that surrounds the nerve. The end result, however, is the same — weaker messages traveling between your extremities and your brain.
That means some of the muscles in your feet may not receive your brain's signal to contract, so you're more likely to trip and fall. And your brain may not receive pain messages from your feet, so if you've rubbed a blister on your toe, for example, it may get infected without your realizing it.
Charcot-Marie-Tooth disease is hereditary, so you're at higher risk of developing the disorder if anyone in your immediate family has had the disease. Other causes of neuropathies, such as diabetes, may cause symptoms of or worsen Charcot-Marie-Tooth disease.
Complications of Charcot-Marie-Tooth disease vary in severity from person to person, with foot abnormalities and difficulty walking generally being the most serious problems. Muscle weakness may also increase, and injury to areas of the body with decreased sensation may occur.
Preparing for your appointment
You might first discuss your symptoms with your family doctor, but he or she will probably refer you to a neurologist for further evaluation.
What you can do
What to expect from your doctor
During the physical exam, your doctor may check for:
Tests and diagnosis
Your doctor may recommend the following tests, which can help provide information about the extent of your nerve damage and what may be causing it.
Treatments and drugs
There's no cure for Charcot-Marie-Tooth disease. However, some treatments can help you manage its signs and symptoms.
Lifestyle and home remedies
Certain tactics may prevent complications caused by Charcot-Marie-Tooth disease and improve your ability to manage the effects of the disorder.
Started early and followed regularly, at-home activities can provide protection and relief:
Foot care is important
Coping and support
Support groups, in conjunction with your doctor's advice, can be valuable in dealing with Charcot-Marie-Tooth disease. Support groups bring together people who are coping with the same kinds of challenges, along with their families and friends, and offer a setting in which people can share their common problems.
Ask your doctor about support groups in your community. Your local health department, public library and telephone book and the Internet also may be good sources to find a support group in your area.
Last Updated: 2010-08-07
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