Charcot (shahr-KOH)-Marie-Tooth disease is a group of hereditary disorders that damage the nerves in your arms and legs (peripheral nerves). Charcot-Marie-Tooth is also known as hereditary motor and sensory neuropathy.
The main signs and symptoms of Charcot-Marie-Tooth disease are muscle weakness and decreased muscle size. You may also notice decreased sensation in affected areas. Foot deformities such as hammertoes and high arches are common in Charcot-Marie-Tooth disease. Symptoms usually begin in your feet and legs, but they may eventually affect your hands and arms.
Muscle weakness and loss of balance can make walking difficult. Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood, but this condition can develop in midlife too.
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 hands and arms. The severity of symptoms can vary greatly from person to person. This is true even among family members.
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.
Because appointments can be brief, and because there's often a lot of ground to cover, it's a good idea to arrive well prepared. Here's some information to help you get ready for your appointment and know what to expect from your doctor.
What you can do
Your time with your doctor may be limited, so preparing a list of questions can help you make the most of your time together. For Charcot-Marie-Tooth disease, some basic questions to ask your doctor include:
What to expect from your doctor
Tests and diagnosis
During the physical exam, your doctor may check for:
Your doctor may also 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. But, the disease generally progresses slowly, and the expected length of life isn't shortened by the disorder.
There are some treatments to help you manage Charcot-Marie-Tooth disease.
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. The Internet and your local health department, public library and telephone book also may be good sources to find a support group in your area.
Last Updated: 2013-02-14
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