Charcot-Marie-Tooth Disease

What is it?
Charcot-Marie-Tooth disease is a group of nerve related disorders that are passed down through families (inherited). 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 and Clinical Presentation
​Motor nerves, which control the leg muscles, are the most affected. Because of this, early signs and symptoms are often seen around the foot and ankle. Symptoms usually will begin to appear in late childhood or early adulthood. A person may notice weakness in lifting their foot or feel that they are “slapping” their foot when they walk. The foot itself will usually have a very high arch. Loss of muscle mass in the lower leg is also common with the appearance of very skinny calves.  Some patients may also experience numbness in the leg or foot.
Cause (including risk factors)
​Charcot-Marie-Tooth is caused by changes (mutations) of 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 by the disease. Approximately 1 in 2,500 people are affected with this disease.
Anatomy
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Diagnosis
​Usually a complete history and physical examination by your doctor will be done. They may ask you to perform certain 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 a study of your nerve’s signals will be ordered.  This is called an electromyography, which tests the nerves in your legs. Your doctor may also order a DNA test.
Treatment Options
​Currently there is no cure for Charcot-Marie-Tooth disease. Treatment is aimed at helping to manage the symptoms and assist function. Maintaining good strength and range of motion is very important so physical therapy may be prescribed. An AFO (ankle-foot orthosis) may be prescribed along with appropriate shoewear to help with walking. Medications to help with the numbness may also be discussed. Patients with CMT 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
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Outcome
​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 by 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 .
Complications
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Frequently Asked Questions
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Additional Resources