Charcot-Marie-Tooth (CMT) disease is a group of nerve disorders caused by gene changes. These disorders are inherited and are sometimes called “inherited neuropathies.” That means they are passed from parent to child.

Charcot-Marie-Tooth disease affects the nerves that go from your brain to the rest of your body. These nerves are called peripheral nerves. See Figure 1. Peripheral nerves include:

Figure 1. Peripheral nerves go from the brain and spinal cord throughout the body.

Charcot-Marie-Tooth disease is most often inherited. That means it is caused by a gene change that is passed from parent to child. There are different gene changes, called gene mutations, linked to CMT. Figure 2 shows the different areas on your nerves that can be affected by CMT.

The type of gene change also determines your symptoms and when you start having them. 

Figure 2. A nerve cell, called a neuron. CMT can damage the axon or the myelin sheath. This can slow or prevent the nerve from sending signals.

Charcot-Marie-Tooth disease affects both the sensory and motor nerves. Symptoms usually begin in the feet and legs. Then they move to the hands and arms. Symptoms and how severe they are varies between people.

Symptoms often begin when a person is a teen or young adult but can occur earlier in childhood.

To diagnose Charcot-Marie-Tooth disease, you meet with a specialist called a neurologist. They do a full neurological exam. They will also ask about your family health history.

A neurologist may do these tests:

CMT is usually inherited from parents. So, if you have no family history of this disease, your health care provider may look for other causes of your symptoms.

There is no cure for Charcot-Marie-Tooth disease. But your health care team can help you manage symptoms and improve your quality of life. Here are some ways your health care team may help you manage symptoms:

Charcot-Marie-Tooth disease is not necessarily fatal. Most people who have this disease have normal life spans and stay active. And yet, in rare cases, nerve damage may affect your lung function. This may affect your ability to breathe. It is often worse at night. If this happens, you may need a device to help you breathe while you sleep.

Living well with Charcot-Marie-Tooth disease is possible. Work with your health care team to make a treatment plan and attend follow-up appointments as you are told. Other ways to manage your disease and symptoms include:

Contact your health care team if you notice:

Talk to your health care team about when to contact them.

This study explores the genetic causes of Charcot-Marie-Tooth Disease (CMT) and how the hereditary disorder affects patients over time. Learn more.

Want to learn more about receiving care or taking part in an SMA clinical trial at St. Jude? Please contact the Physician/Patient Referral Office:

Phone: 888-226-4343 Email: referralinfo@stjude.org

This is a study to find the best dose of nusinersen (Spinraza) that will improve muscle function in patients with spinal muscular atrophy. View eligibility.

This study will test how well the drug apitegromab improves motor function in children with spinal muscular atrophy when added to Evrysdi and Spinraza therapy.

The St. Jude website is designed for educational purposes only and is not engaged in rendering medical advice or professional services. The information provided through this site should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. If you have or suspect you may have a health problem, you should consult your health care provider.

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