Charcot-Marie-Tooth Disease

Causes of Charcot-Marie-Tooth disease

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.

• Some changes damage the fibers within nerves, called the axon.
• Other gene changes damage the protective coating around nerves, called the myelin sheath.
• Both gene changes cause the nerves to be damaged and affect the way information travels through the nerve cells.

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

Symptoms of Charcot-Marie-Tooth disease

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.

Symptoms may include:

• Muscle weakness or loss of muscle in feet, ankles, legs, arms, and hands.
• Frequent trips or falls.
• Problems lifting feet at the ankles. This is called foot drop.
• Problems walking or running.
• Slowed reflexes.
• Loss of feeling in the legs and feet. This includes loss of ability to feel vibrations and sometimes temperature.
• Hand tremors and pain or cramping in legs and feet.

Diagnosing Charcot-Marie-Tooth disease

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:

• A blood test to identify gene changes.
• Nerve studies to see how quickly information passes through your nerves.
• Electromyography to measure how your nerves and muscles respond to electrical stimulation.
• A nerve biopsy to look at your nerve tissue under a microscope.

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.

Treating Charcot-Marie-Tooth disease

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:

• Occupational therapy. This type of therapy helps you use special devices to make daily activities easier. An example includes using rubber grips. You could also use Velcro on your clothing instead of buttons or zippers.
• Physical therapy. You may work with a physical therapist to strengthen and stretch muscles. This can help prevent or delay muscle weakness or damage.
• Orthopedic devices. Special splints, braces, or boots can help protect joints and increase the strength of arms, legs, hands, and feet.
• Pain medication. Pain in CMT is usually related to changes in muscle structure and function and improper walking. There may be some orthopedic and/or medication options, depending on your needs. Work with your health care team to find the best ways to manage pain.

Complications of Charcot-Marie-Tooth disease

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.

Common complications include:

• Injuries that occur when you fall.
• The disease getting worse if you take certain medications.
• Injuries or infections on the feet that are not noticed due to lack of sensation.

Living well with Charcot-Marie-Tooth disease

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:

• Exercise and stretch regularly.
• Eat a balanced diet.
• Maintain a healthy weight.
• Check your arms, legs, and feet regularly for injury or infection.
• Talk to your health care team before starting any new medications.

When to contact your health care team

Contact your health care team if you notice:

• Signs of foot injury or infection
• Trouble breathing
• Symptoms that get worse or any new symptoms

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

Why choose St. Jude for your child’s Charcot-Marie-Tooth disease treatment?

• We have expanded our focus on neurologic disorders by creating the Center for Experimental Neurotherapeutics. The center focuses on research and treatment of pediatric neurologic disorders. 
• Richard S. Finkel, MD, leads the Center for Experimental Neurotherapeutics. He has 30 years of experience researching and treating Charcot-Marie-Tooth disease and other neurologic disorders.  
• St. Jude has a close relationship with two other Memphis institutions, Le Bonheur Children's Hospital and the University of Tennessee Health Science Center. We are partnering to create a Neuroscience Research Consortium. This group investigates treatments for children with severe neuromuscular diseases and other neurologic disorders. 
• St. Jude is one of 6 sites that make up the Pediatric Neuromuscular Clinical Research Network. These sites work together to expand treatments, increase clinical trials, and promote newborn screening.