Charcot-Marie-Tooth Disease (CMT) | Baylor Scott & White Health

Types of Charcot-Marie-Tooth disease

There are different types of CMT, each caused by specific genetic changes. The type you have can affect when symptoms begin and how quickly they progress.

CMT1

The most common type of CMT, CMT1 affects the myelin sheath, the protective covering around nerves. This slows down nerve signals. Symptoms often start in childhood or the teen years and may include weakness in the legs, high arches or other foot changes, and trouble with balance.

CMT2

CMT2 affects the nerve fibers themselves, not the myelin sheath. Symptoms are similar to CMT1 but may progress differently. Weakness often begins in the lower legs and feet before affecting the hands.

CMT3 (Dejerine-Sottas disease)

A rare and more severe form, CMT3 often starts in infancy. It can cause significant muscle weakness, delays in learning to walk and loss of sensation. Children may need braces, walkers or wheelchairs at an earlier age.

CMT4

CMT4 is a group of rare subtypes that usually affect the myelin sheath. Symptoms often begin in childhood and can be more severe, leading to difficulty walking and loss of feeling in the arms and legs.

CMTX

CMTX is linked to the X chromosome. Males often have more noticeable symptoms, while females may have milder ones. It can cause weakness in the legs and arms, balance problems and sometimes hearing or vision changes.

What causes Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease is caused by changes (mutations) in your DNA, which contains the instructions your cells need to function. When these instructions change, nerve cells may not work properly. This can damage the peripheral nerves, which carry signals between your brain, spinal cord and the rest of your body.

CMT can result from mutations in one gene or several. Researchers have identified dozens of different gene mutations that can cause the various types of CMT. These mutations may harm the nerve fibers themselves or the protective covering around them called myelin. When nerve signals are disrupted, it affects muscle control and sensation, often in the feet, legs, hands and arms.

You can develop a DNA mutation in one of two ways:

Inherited: The mutation is passed to you from one or both parents.
Spontaneous: The mutation develops while you are still an embryo in the uterus. These “de novo” mutations occur for the first time in you and are not inherited.

How is Charcot-Marie-Tooth disease diagnosed?

Diagnosing Charcot-Marie-Tooth disease is often a detailed process because its symptoms can be similar to those of other nerve and muscle disorders. Your doctor will use a combination of your medical history, a thorough physical exam, nerve function tests, imaging scans and sometimes genetic testing to confirm the diagnosis. The main goals are to determine if your symptoms are caused by CMT, identify the specific type, rule out other possible conditions and create a plan for managing your symptoms.

Medical history and exam

Your doctor will start by asking detailed questions about your personal and family medical history. This includes whether any relatives have been diagnosed with CMT or have experienced similar symptoms such as muscle weakness, balance issues or foot deformities. If you do not have a known family history, your doctor may ask about other health conditions like diabetes or thyroid disorders, or exposures to medications, toxins or chemicals that can damage the nerves.

During the physical exam, your doctor will check for muscle weakness, loss of reflexes and changes in sensation. They may ask you to walk on your heels or toes, test your balance or assess how well your joints move. They’ll look for signs such as foot drop, hammertoes, high arches or thin lower legs (sometimes called “stork legs”).

In some types of CMT, the myelin sheath around the nerves becomes thicker than normal, which can make nerves appear enlarged and visible under the skin.

Charcot-Marie-Tooth disease treatment

While there is currently no cure for Charcot-Marie-Tooth disease, treatment focuses on managing symptoms, maintaining mobility, reducing discomfort and preventing complications. Your care plan will be tailored to your specific type of CMT, the severity of your symptoms and your overall health. Most people benefit from a combination of medication, therapy, assistive devices and, in some cases, surgery. Regular follow-up with your neurologist and care team is important to monitor your condition and adjust your treatment plan over time.

Medication

CMT can cause joint or muscle pain, as well as nerve pain. Your neurologist may recommend one of the following medications to help you manage it:

Over-the-counter pain relievers: Medications such as acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen and aspirin can help ease joint or muscle discomfort.
Anti-seizure medications: Originally developed to treat epilepsy, these medicines (such as gabapentin or pregabalin) can help manage nerve pain caused by CMT.
Tricyclic antidepressants: Certain antidepressants, including amitriptyline and nortriptyline, are sometimes prescribed off-label to relieve neuropathic pain.

Find specialized care for Charcot-Marie-Tooth disease

At Baylor Scott & White, we help you get care at a location that fits your needs when it comes to the care and treatment of orthopedic and neurologic conditions, such as Charcot-Marie-Tooth disease in North and Central Texas. Whether you're seeking diagnostic testing, treatment options or require ongoing support, our teams are here to help you.

Baylor Scott & White - Plano Brain and Spine Center

4708 Alliance Blvd Pavilion I, Ste 810, Plano, TX, 75093

Baylor Scott & White - Plano Brain and Spine Center

4708 Alliance Blvd Pavilion I, Ste 810, Plano, TX, 75093

Types of Charcot-Marie-Tooth disease

What causes Charcot-Marie-Tooth disease?

How is Charcot-Marie-Tooth disease diagnosed?

Medical history and exam

Nerve function tests

Imaging tests

Genetic testing

Nerve biopsy

Charcot-Marie-Tooth disease treatment

Medication

Therapies and assistive devices

Surgery

Coping and support

Find specialized care for Charcot-Marie-Tooth disease

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