Charcot-Marie-Tooth Disease

The Basics

Written by the doctors and editors at UpToDate пїЅ пїЅ

What is Charcot-Marie-Tooth disease? " пїЅ Charcot-Marie-Tooth disease (also called CMT) is not a single disease but rather a group of nerve disorders that affect movement and sensation in the arms and legs. These disorders are grouped together because they run in families and have similar symptoms. The different types of CMT are caused by problems in many different genes. пїЅ пїЅ

What are the symptoms of Charcot-Marie-Tooth disease? " пїЅ In general, people with CMT have weakness and decreased sensation in the lower part of their legs, and they have problems with their feet. Sometimes their hands and wrists are also affected. пїЅ пїЅ

Symptoms of the most common form, called CMT1, usually start in childhood, and can include: пїЅ пїЅ

Weakness of the foot and lower leg muscles " пїЅ This weakness often leads to repeated ankle sprains.
Foot problems, such as high arches and toes that bend up at the middle joint (called hammertoes)
Lower legs that look very narrow at the bottom and wider at the calf (like an upside-down champagne bottle or a stork leg) " пїЅ The legs look like this because there is so little muscle near the ankle.
Numbness in the foot or being unable to feel where the foot is placed " пїЅ This can cause the person to be clumsy and to fall a lot.
Abnormal curves in the spine " пїЅ The medical terms for these curves are "scoliosis " пїЅ and "kyphosis. " пїЅ These usually develop later in life than the other symptoms.

In other types of CMT, the symptoms might be slightly different. For example, there is usually more loss of sensation with CMT2 than with CMT1. пїЅ пїЅ

Should I see a doctor or nurse? " пїЅ Yes. If you develop weakness or lose feeling in your legs or arms, see a doctor or nurse. If someone in your family has CMT, be sure to mention that during your visit. пїЅ пїЅ

Will I need tests? " пїЅ Maybe. If you develop symptoms of CMT, your doctor or nurse will ask you questions and do an exam. If he or she is unsure what is causing your symptoms, you might need tests, such as: пїЅ пїЅ

Blood tests " пїЅ These tests are used to check for the genes that cause CMT.
Nerve conduction studies or electromyography " пїЅ These tests measure how well electrical signals travel across the nerves that control the arms or legs. They can also show whether the muscles respond to electrical signals from the nerves the way they should.
Nerve biopsy " пїЅ For a biopsy, a doctor takes a small chunk of nerve to look at under the microscope.

How is Charcot-Marie-Tooth disease treated? " пїЅ The main treatment for CMT involves working with an occupational or physical therapist. When you work with a therapist, you learn new ways to do the tasks you need to do, such as walk and climb stairs. You also learn special stretches and exercises that can help you have better control of your arms and legs. If your muscles cramp or get too tense because of your CMT, a therapist can also teach you ways to help those muscles relax. пїЅ пїЅ

Another thing that helps people with CMT is the use of special shoes, canes, walkers, and other devices. A physical therapist can recommend the most useful devices for each person. пїЅ пїЅ

People who have foot problems caused by CMT sometimes also need surgery to correct the problems. пїЅ пїЅ

Is there anything else I should do? " пїЅ Yes. Always make sure all your doctors and nurses know you have CMT. There are certain medicines they should not prescribe to you because they can make CMT worse. пїЅ пїЅ

It might also be a good idea to exercise and to avoid gaining weight. This will help you keep the strength you do have. пїЅ пїЅ

What if I want to have children? " пїЅ If you want to have children, ask your doctor what the chances are that your baby will have CMT. пїЅ пїЅ

All topics are updated as new evidence becomes available and our peer review process is complete. пїЅ пїЅ

This topic retrieved from UpToDate on: Nov 04, 2014. пїЅ пїЅ

Topic 83812 Version 2.0 пїЅ пїЅ

Release: 22.8 - C22.208 пїЅ пїЅ

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Charcot-Marie-Tooth Disease

The Basics

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