Charcot-Marie-Tooth Disease

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What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth (CMT) disease is a group of genetic conditions that affect the long nerves branching from your child’s spinal cord into distant parts of their body, like their arms and legs. These are called peripheral nerves.

Charcot-Marie-Tooth (SHAR-ko mah-ree tooth) disease affects both main types of peripheral nerves:

  • Motor nerves, which control the muscles that help your child walk, move and use their hands and feet
  • Sensory nerves, which sense pain, touch and temperature and help with balance

CMT happens if there’s a change in a gene that makes proteins needed in your child’s peripheral nerves. The proteins help to build long, thin nerve fibers called axons and the axon’s protective coating (myelin). Some children with CMT inherit the gene change from 1 or both parents. A child can also develop CMT if there is a new (de novo) change in a gene that can cause CMT.

Over time, CMT has these effects:

  • Your child’s peripheral nerves are damaged and cannot carry signals normally.
  • Because they do not get strong signals to move, your child’s muscles become weaker and smaller (atrophy). This mainly affects the muscles farther from their spinal cord, in their feet, legs, hands and forearms. 

CMT is named for the 3 doctors who first identified it. It does not have anything to do with teeth. CMT is also known as hereditary motor and sensory neuropathy.

Charcot-Marie-Tooth Disease Care at Seattle Children's

Our Neuromuscular Program offers the most comprehensive care in the Pacific Northwest for children with Charcot-Marie-Tooth disease and was recognized as a CMTA Center of Excellence by the Charcot-Marie-Tooth Association.

What are the symptoms of Charcot-Marie-Tooth disease?

Each child with CMT is unique. Symptoms can range from mild to severe. Even within families, there are differences. The type of CMT your child has determines how soon symptoms start and how quickly they worsen. Usually, the longest nerves are affected first, so symptoms often start in the feet and legs.

CMT almost never affects a child’s brain, intelligence or ability to think and learn. 

  • More common symptoms
    • Weak leg, ankle and foot muscles. Weakness may cause foot drop. It may make your child trip, fall or walk with an awkward or high step.
    • Loss of muscle (atrophy). Your child’s lower leg may look thinner than usual.
    • Weak hand muscles, which might cause problems with writing or holding things.
    • Bone and joint problems caused by stronger muscles pulling against weaker muscles (muscle imbalance).
    • Toes bent at the middle joint (hammertoe) or high arches (cavus foot).
    • Loss of some feeling in the feet and hands.
    • Numbness, tingling or burning feeling, usually mild.
  • Less common symptoms
    • Pain from nerve damage or muscle cramps
    • Problems with curved spine (scoliosis or kyphosis) or with the hip bone and socket (hip dysplasia) caused by muscle imbalance
    • Trouble breathing, swallowing or speaking, if CMT affects nerves that control the muscles used in these actions

How is Charcot-Marie-Tooth disease diagnosed?

Your child’s doctor will:

  • Ask about your child’s symptoms, development and medical history
  • Ask if anyone else in your family has had the same kind of symptoms
  • Perform a neurological exam to look for common signs of CMT in your child, such as:
    • Muscle weakness
    • Loss of muscle
    • Reduced reflexes
    • Bone or joint problems
    • Loss of feeling

Your child may need some of these tests to get more information:

  • Studies to diagnose nerve and muscle problems (electromyogram and nerve conduction velocity or EMG/NCV)
  • X-ray to check for bone problems
  • A blood draw to look for some of the gene changes that cause CMT

Seattle Children’s offers genetic counseling and testing for parents and other family members of children with CMT. There are over 100 different types of CMT, all caused by changes in different genes. We only know the specific genes for some types of CMT. But researchers continue to discover others. Genetic testing adds to our understanding of CMT types and helps develop future treatments.

Types of CMT

Genetic counselors can explain the complex genetic testing options to help identify the cause of your child’s CMT. They can help your family understand how some forms of CMT are passed from parent to child (inherited) and who else may be at risk in the family. 

Types of CMT are grouped based on:

  • Which area of the nerve is most affected — the nerve fiber (axon) or coating (myelin)
  • How it is inherited

For example, CMT type 1 (CMT1) mainly affects the myelin. A single change in 1 copy of the gene pair causes symptoms. 

Once a genetic cause is identified, then a letter is added to the name to show which gene is affected. The most common causes of CMT are:

  • CMT1A caused by an extra copy of the PMP22 gene
  • CMT1B caused by changes in the MPZ gene
  • CMT2A caused by changes in the MFN2 gene
  • CMT1X caused by changes in the GJB1 gene
  • HNPP caused by a missing copy of the PMP22 gene

Your child’s healthcare team can explain the type of CMT your child has and what it may mean for your child and family.

How is Charcot-Marie-Tooth disease treated?

Experts in Seattle Children’s CMT Center of Excellence provide physical therapy, occupational therapy, bracing devices, orthopedic surgery and other treatments to give your child the best possible function and quality of life — now and as they grow.

Your child will receive complete care from the team in our Neuromuscular Program and from experts across Seattle Children’s. When possible, your child sees their entire team on a single day to make the process easier for your family.

We bring together child medicine (pediatric) specialists from Rehabilitation Medicine, Neurology and Orthopedics. If needed, Pulmonary and Sleep Medicine and the Heart Center will evaluate your child and tailor care to their needs.

At this time, there is no cure for any type of CMT. Clinical trials are testing new treatments for some types. Your child’s team at Seattle Children’s can help identify the specific cause of your child’s CMT. If there’s research (a clinical trial) about your child’s type of CMT, we can see if your child is eligible.

  • Treatments for movement and function

    To help maintain your child’s ability to move and do the things they want to, your child may have:

    • Physical therapy for strength, flexibility, balance, stamina and general health. We also assess if equipment may help your child move around.
    • Occupational therapy to help your child with activities like writing, dressing and using a computer keyboard.
    • Shoe inserts or braces for your child’s ankles and feet to help them walk more easily.
    • Braces to support their fingers and thumbs to help with writing and other tasks.
    • Orthopedic surgery for conditions like hammertoe, high arches, scoliosis or kyphosis.
    • Medicines to ease any pain your child may have.
    • If needed, devices that help your child walk or get around, such as a cane, walker, wheelchair or motorized scooter.
  • Diet and nutrition

    A dietitian will work with you and your child to make sure they get the nutrition that supports their best growth and development.

  • Support and social work

    A social worker helps your child and family with coping, social relationships, behavior and emotions. Along with your child’s doctors, nurses and therapists, the social worker will connect you with helpful resources at Seattle Children’s and in the community.

  • Lung care

    CMT does not usually affect breathing muscles. If it affects your child’s breathing, we will assess how well your child’s lungs work. As needed, we provide care to support their breathing.

    Some people with CMT may need a machine to help with breathing. Options include bilevel positive airway pressure (Bi-PAP) or continuous positive airway pressure (CPAP) at night.

Why choose Seattle Children’s for Charcot-Marie-Tooth disease care?

CMTA Center for Excellence logoRecognizing the high quality of care and support we provide for children with CMT and their families, the Charcot-Marie-Tooth Association has named Seattle Children’s Neuromuscular Program a CMTA Center of Excellence.

Seattle Children’s Neuromuscular Program offers the most comprehensive care in the Pacific Northwest for children with Charcot-Marie-Tooth disease. We have the expertise and experience to diagnose your child and give them the best care for their unique needs. Our team includes doctors, neuropsychologists, therapists, dietitians, genetic counselors, orthotists, nurses and social workers.

Seattle Children’s offers a range of treatments to support your child’s health, comfort and ability. We want to help them be as healthy, active and independent as they can. Options include medicines, therapy, equipment and orthopedic surgery. As part of the Inherited Neuropathy Consortium (INC), we work to identify the genes that cause the many types of CMT and develop better ways to assess and treat patients.

Contact Us

Contact the Neuromuscular Program at 206-987-6678 for a referral, a second opinion or more information.

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Paying for Care

Learn about paying for care at Seattle Children’s, including insurance coverage, billing and financial assistance.