Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder. It is called a peripheral neuropathy because it affects peripheral nerves, which are nerves outside the brain and spinal cord. The nerve types affected in CMT are:
Often, CMT symptoms are not severe, and many treatments can help.
There are many different types of CMT. The symptoms someone has and at what age they start varies depending on the type. In some kinds of CMT, babies and toddlers have weakness and muscle loss. They may:
In the most common forms of Charcot (shahr-KOE)-Marie-Tooth disease, symptoms first appear in teens or young adults. Symptoms all relate to muscle weakness or changes in sensation in the hands, forearms, lower legs, and feet, and include:
Kids with CMT can develop scoliosis (a curved spine) or stiff and deformed joints (contractures) as the disease progresses.
CMT happens because of gene mutations (changes). The changes can damage the nerves or their protective coating, called myelin. If a nerve or its myelin is damaged, the nerve can't send signals.
Changes to many different genes can cause CMT. The type of CMT someone has depends on which gene is affected.
Usually, a child with CMT inherited the changed gene from one parent. Sometimes the changed gene doesn't come from a parent, but happens as the child's genes form before birth.
Doctors will do an exam, ask about symptoms, and find out whether family members have CMT or similar symptoms.
Tests can help make sure the problem is CMT and not something that could go away with treatment. These tests include:
There is no cure for CMT yet. The treatment goal is to help the person stay as active as possible. Because of the loss of feeling, avoiding injury from impact and burns requires extra care.
Treatments to help kids stay as active as possible include:
Doctors will also check for other problems that are rare in CMT disease, like trouble with breathing during sleep.
People with CMT have a normal life expectancy, and most can walk their entire lives.
Finding support can help you and your child. Ask the care team about ways to connect with other families who are managing CMT and how to stay up to date on treatment research. You also can find more information and support online at:
Reviewed by: Elana Pearl Ben-Joseph, MD
Date Reviewed: Sep 15, 2023
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