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  3. Charcot-Marie-Tooth Disease (CMT)
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Charcot-Marie-Tooth Disease (CMT)

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Charcot-Marie-Tooth disease (CMT) is the name given to more than 50 types of peripheral neuropathy. These disorders are inherited, or caused by a gene mutation that runs in families. 

University of Iowa Health Care is home to some of the country’s leading CMT experts. People travel here from all over the world because we offer a level of expertise that’s hard to find.  

We can help you: 

  • Confirm your diagnosis 

  • Learn more about your condition and how it’s likely to affect you 

  • Understand what treatments you may need, now and in the future 

  • Enroll in clinical trials to help us better understand CMT, and offer you new treatments before they’re widely available 

  • Coordinate genetic testing for any family members who want to see if they carry the same gene mutation 

Even though there isn’t a cure for CMT, we can help you manage your symptoms and improve your quality of life.  

Charcot-Marie-Tooth disease causes and symptoms

Charcot-Marie-Tooth disease damages your peripheral nerves. These are the long nerves that run from your spinal cord to your arms, hands, legs, and feet.  

What causes Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease is caused by an abnormality (mutation) in one of your genes. This mutation, which can be passed down from one generation to the next, makes it harder for your peripheral nerves to work properly.  

So far, scientists have discovered more than 50 gene mutations that can cause CMT. Some of these mutations harm the fatty tissue (myelin) that surrounds and protects your nerves. Others damage the nerve fiber (axon), which carries signals to your muscles and other parts of your body. 

Each type of CMT begins at different ages, causes different symptoms, and progresses at different rates. These factors depend on which gene mutation you have. 

Some of the more common types of CMT have their own names. These include: 

  • CMT1 

  • CMT1A 

  • CMT3 (Dejerine-Sottas disease) 

  • CMTX1 

Symptoms of Charcot-Marie-Tooth disease

Symptoms of CMT vary, depending on which gene mutation you have and how that mutation affects your nerves. They include: 

  • Burning or tingling in your hands or feet 

  • Foot abnormalities, such as high arches or hammertoes 

  • Loss of feeling or sensation 

  • Muscle cramping 

  • Muscle loss (atrophy) 

  • Muscle weakness, especially in your lower legs, ankles, and feet 

  • Nerve pain 

  • Problems lifting your foot at the ankle (foot drop) 

Because these symptoms usually affect the legs and feet, people with CMT often trip or fall in the early stages of their disease. 

In rare cases, CMT can also harm the muscles that help you hear, breathe, speak, or swallow. 

Diagnosing Charcot-Marie-Tooth disease

If you or your provider suspect you have CMT, turn to UI Health Care. We offer all the tests you might need to pinpoint the cause of your symptoms.  

These may include: 

  • A neurological examination to look for muscle weakness, loss of sensation, and foot abnormalities 

  • Blood tests to check for other conditions that can cause nerve pain or muscle weakness 

  • An electromyogram (EMG) and nerve conduction study to measure how well your muscles respond to nerve stimulation 

  • Hand function tests to assess your grip, dexterity, and other measures of hand strength and function 

  • A nerve biopsy to look for signs of damage on a small piece of nerve removed from your body 

  • Neurogenetic testing to look for any gene mutations that are known to cause CMT 

  • A skin biopsy to assess the health of certain nerve fibers found in your skin  

It’s important to find a neurologist with expertise in CMT—like those from UI Health Care—because different types require different treatment strategies.

Charcot-Marie-Tooth disease treatment from UI Health Care

So far, we can’t cure or slow the progression of CMT. But with the right combination of therapies, we can help you live well with your disease. 

Depending on the type of CMT you have—and the severity of your symptoms—your treatment plan may include: 

Medications

Certain prescription drugs can help you reduce nerve pain.

Occupational therapy

Teaches you easier ways to perform everyday tasks such as bathing, dressing, grooming, and cooking.

Physical therapy

Helps you safely increase strength and flexibility and improve balance or mobility.

Mobility aids

Orthopedic devices can help you move around more easily or improve hand function. These include foot or ankle braces, canes, walkers, wheelchairs, and thumb splints.

Surgery

You may need orthopedic surgery to correct foot abnormalities or to improve certain complications of CMT such as scoliosis or hip dysplasia.

Our goal is to help you maintain mobility, prevent injuries, and continue performing your normal or favorite activities. 

Convenient, one-stop care for CMT disease

UI Health Care is home to one of the country’s only clinics dedicated to CMT patient care and research. It brings together many CMT specialists who can see you on the same day, and under the same roof. 

Depending on your needs, these specialists may include: 

  • Audiologists who can help treat CMT-related hearing loss 

  • Neurogenetic counselors who can teach you about your gene mutation or coordinate genetic testing for your immediate family members (parents, siblings, or children) 

  • Neurologists who specialize in neuromuscular diseases like CMT 

  • Orthopedic surgeons who can treat foot abnormalities that are common in people with CMT 

  • Orthotists who can help you obtain custom mobility aids or orthotic devices, such as foot and ankle braces  

  • Rehabilitation specialists, including physical therapists and occupational therapists, who can help you feel and function better and improve your ability to perform everyday tasks 

  • Research coordinators who can help you enroll in clinical trials for promising new CMT treatments 

  • Speech therapists who can help you improve any CMT-related speech or swallowing problems 

Once you’ve established care with our CMT clinic, you can continue to count on us for complete care and support. Whether you only see us once each year for a thorough follow-up visit or you need more frequent visits with a single specialist, we’re here to help. 

A leader in CMT disease research

UI Health Care specialists can answer questions about CMT that many other providers can’t.  

That’s because our neurologists are also researchers. We’re at the forefront of new discoveries related to these conditions—and the gene mutations that cause them. 

For example, we’re the lead site for an international research network called the Inherited Neuropathies Consortium (INC). We’re helping push the field of CMT care forward in many ways:  

  • Members of INC have discovered many of the gene mutations known to cause CMT. 

  • We conduct “natural history studies” to understand how each of these gene mutations affect people. This includes differences in the age of onset and the rate at which symptoms progress. 

  • We’re working to develop new CMT treatments, such as gene replacement therapy.  

Certified by the Muscular Dystrophy Association
Our CMT clinic has been named an MDA Care Center by the Muscular Dystrophy Association. This designation is only given to medical centers that offer team-based care and opportunities to take part in research studies.
Sidebar content
  • Neurology and Neurosurgery
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    • Alzheimer's Disease and Dementia
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    • Charcot-Marie-Tooth Disease (CMT)
    • Chiari malformation
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    • Electromyography (EMG) and Nerve Conduction Study
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    • Peripheral Neuropathy
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Looking for a CMT disease specialist?

If you need help understanding how your CMT may progress and what symptoms it may cause, call UI Health Care. We’ll connect you with a neurologist who specializes in managing all types of Charcot-Marie-Tooth disease.
Call 1-800-777-8442

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