Charcot-Marie-Tooth disease is an inherited nerve defect that causes abnormalities in the nerves that supply your feet, legs, hands, and arms. It affects both your motor and sensory nerves. Motor nerves carry signals from your brain to your muscles, telling them to move. Sensory nerves carry sensations, such as heat, cold, and pain back to your brain. Charcot-Marie-Tooth is considered a peripheral neuropathy because it affects nerves outside of your brain and spinal cord.
This disease is named after the 3 doctors who first described the disease in 1886. It is one of the most common types of inherited nerve diseases.
Charcot-Marie-Tooth is almost always caused by a gene defect inherited from one or both parents. The genetic information that one or both of your parents passes on to you determines the type of gene mutation you have. This gene mutation determines what symptoms you have and how old you are when they start.
Some genetic defects affect the axon, the part of the nerve that sends signals to other nerves. Other genetic defects affect the protective lining around the axon, called the myelin sheath. Either type of defect can lead to long-term damage of the nerve and affect its ability to send signals.
Charcot-Marie-Tooth symptoms may vary from person to person, though they usually start in your feet and legs. Over time, the disease may also affect your hands and arms. Symptoms usually first appear in teens and young adults.
Common symptoms include:
A specialist called a neurologist may diagnose Charcot-Marie-Tooth after doing a complete neurological exam and asking about your family history. Tests that help make the diagnosis include:
Nerve biopsy, which involves taking a small piece of a nerve and examining it under a microscope
If you have no family history of this disease, your healthcare provider may consider looking for other causes of your symptoms.
There is no cure for Charcot-Marie-Tooth, but these treatment options can help:
Charcot-Marie-Tooth is not a fatal disease, and most people live to a normal age and remain active. In rare cases, it may affect the muscles you need to breathe. Because this can be especially dangerous at night, you may need a nighttime breathing assistive device.
More common complications include:
It is very important to learn as much as you can about your disease, and work closely with your neurologist. Genetic counseling may be important for family planning. Other ways to manage your disease include:
Tips to help you get the most from a visit to your healthcare provider:
The University of Chicago Medicine
5841 S. Maryland Avenue
Chicago, IL 60637 | 773-702-1000
Appointments: Call UCM Connect at 1-888-824-0200