Charcot Marie Tooth Disease

Charcot-Marie-Tooth disease usually begins in childhood and early adulthood. The disease usually begins with the foot creating a high arch that causes difficulty with walking. Very young children may have difficulty learning to walk. The movement disorder specialists at Cook Children are very experienced in the diagnosis of this disease and in providing a treatment that can help improve your child's symptoms so they can participate as much as possible in their day to day life.

Charcot-Marie-Tooth (CMT) disease is a group of genetic disorders that affects movement and feeling in the limbs. The disease progresses slowly and causes damage to the peripheral nerves. These nerves control muscles and transmit sensation.

CMT can be classified in a number of ways:

Type I (demyelinating)–This type affects the coating of the nerve called the myelin sheath, causing nerve impulses to travel more slowly. It usually occurs in childhood or the teen years. It is the most common type of CMT.
Type II (axonal)–This type affects the part of the nerve called the axons. Although the speed is normal, the size or amount of impulses is less than normal. This type of CMT is less common and occurs after the teen years.
Type III–Also called Dejerine-Sottas disease, this is a rare, severe, early onset form of CMT. It is sometimes considered to be a subtype of CMT Type I. Symptoms may include:
- Delayed ability to walk due to weakness of the leg muscles closest to the trunk
- Severe sensory problems
- Hearing loss
Type IV (demyelinating autosomal recessive)–This is similar to Type I, but often less severe. It is less likely to be inherited by an affected individual's children.

The primary risk factor for developing CMT is having family members with this disease. If you have CMT or have risk factors, you may want to talk to a genetic counselor.

CMT is caused by defects in specific genes.

Usually, symptoms first appear in children and young adults. The first sign of CMT is often a high arched foot or difficulty walking. Other symptoms may include:

Hammer toes
High arched heels
Decreased sensation in the feet and legs
Muscle cramping in legs and forearms
Flexed toes
Difficulty holding the foot up in a horizontal position
Frequent sprained ankles and ankle fractures
Problems with balance
Muscle weakness in the lower extremities–can spread to the upper extremities later in life
Reduced ability to detect hot and cold, vibration, and position
Difficulty writing, fastening buttons and zippers, and handling small objects
Delay in learning how to walk–Type III
How is it diagnosed?
The doctor will ask about your symptoms and medical history. A physical exam will be done.
You may have your nerve and muscle function tested. This can be done with:
Nerve conduction study
Electromyogram (EMG)

Although there is no cure for CMT, treatment may help to improve function, coordination, and mobility. Treatment is also vital to protect against injury due to muscle weakness and reduced sensation. Treatment may include:

Physical and occupational therapy
Moderate exercise
Braces on the lower legs
Shoe inserts to correct foot deformity
Foot care and routine exams with a foot specialist
Orthopedic surgery

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If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices at 682-303-2650.

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Charcot Marie Tooth Disease

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