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What is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease is a group of nerve-related disorders that are passed down through families. The nerves that are affected are called peripheral nerves. Peripheral nerves are located outside of the brain and spinal cord areas. Charcot-Marie-Tooth disease is the most common inherited nerve disorder. The disease causes damage to the coating around the nerve called the myelin sheath.

Symptoms

Motor nerves, which control the leg muscles, are most affected by Charcot-Marie-Tooth disease. Because of this, early signs and symptoms often are seen around the foot and ankle. Symptoms usually will begin to appear in late childhood or early adulthood. A person may notice weakness when lifting their foot or feel that they are “slapping” their foot when they walk. The foot itself usually will have a very high arch. Loss of muscle mass in the lower leg also is common with the appearance of very skinny calves. Some patients also may experience numbness in the leg or foot.

Causes

Charcot-Marie-Tooth is caused by changes in certain genes that control the structure and function of the nerves to the arms and legs. It is not contagious, but since it is an inherited disease, you may have other family members who are affected. Approximately 1 in 2,500 people have this disease.

Diagnosis

A doctor will conduct a complete history and physical examination. He or she may ask you to perform tests to check the strength and reflexes of several of your leg muscles. X-rays may be taken to look at the bones of your foot and ankle, especially if you are having pain in a certain area. Often the doctor will order a study of your nerve’s signals, called an electromyography, which tests the nerves in your legs. Your doctor also may order a DNA test.

Treatments

Currently there is no cure for Charcot-Marie-Tooth disease. Treatment is aimed at helping to manage the symptoms and improve function in the feet and legs. Since maintaining good strength and range of motion is very important, physical therapy may be prescribed. An ankle-foot orthosis (AFO) may be prescribed along with appropriate shoes to help with walking. Medications to help with numbness also may be discussed. Patients with Charcot-Marie-Tooth disease should inspect their feet daily to detect breakdown of the skin. In rare situations surgery may be discussed to correct significant deformities around the foot and ankle.

Recovery

Charcot-Marie-Tooth disease is a progressive disorder and will require continued treatment throughout a patient's lifetime. As changes occur based on the progression of the disorder it will be important to have regular check-ups with your doctor. Usually treatment will be a team approach with several specialists helping with your care. If symptoms change or worsen prior to your regular check-up it is important to contact your doctor and be seen early.

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