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What Is CMT?

A Brief Overview of Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is a progressive nerve condition that affects movement and sensation in the arms, hands, legs, and feet. Named after the doctors who first identified it in 1886, CMT causes nerve signals to weaken or get lost, leading to muscle weakness, numbness, and balance issues.

Because CMT affects the nerves that control movement and feeling, everyday tasks—like walking, gripping objects, or even maintaining balance—can become more difficult over time. Symptoms can appear at any age, from birth to adulthood, and gradually worsen.

Right now, there’s no cure for CMT—but there is hope. With the right support, mobility solutions like custom braces and corrective surgery can make a life-changing difference for those living with the disease. That’s where we come in.

What Causes Charcot-Marie-Tooth Disease?

CMT is a genetic condition, meaning it’s caused by changes (mutations) in certain genes. The type of CMT someone has depends on which gene is affected. Scientists have discovered more than 100 different mutations that can lead to CMT, but most cases fall into one of four main types.

CMT1: One of the most common forms of CMT, this type affects the peripheral nerves, causing muscle weakness and balance issues. Symptoms typically begin in adolescence or early adulthood. CMT1 is inherited in an autosomal dominant pattern, meaning a child only needs to inherit one mutated gene from a parent to develop the condition.

CMT4: A rarer and more severe form, CMT4 is inherited in an autosomal recessive pattern—meaning both parents must pass on a mutated gene for a child to develop the disease. Symptoms usually start in childhood and can significantly affect mobility. CMT4’s impact on the peripheral nerves is profound, leading to early-onset symptoms that can significantly affect quality of life.

CMT2: Unlike CMT1, which affects the nerve’s protective covering (myelin), CMT2 impacts the nerve fibers themselves (axons). This leads to muscle weakness and sensory loss, often appearing in childhood or early adulthood. CMT2 is also inherited, but the pattern can vary.

CMTX: This type of CMT is linked to the X chromosome, which means it’s inherited differently in males and females. Males often experience more severe symptoms, while females may have milder effects or none at all.

CMT is always hereditary—it’s not something you can catch or develop from outside factors. Some cases start with a spontaneous mutation (a change in DNA that happens at conception), but once that mutation exists, it can be passed down through generations. CMT is something you are born with — it is not caused by anything you do, and it is not contagious.

Symptoms of Charcot-Marie-Tooth Disease

 

CMT symptoms vary depending on the type, but common signs include:

  • Weakness in the hands, legs, or feet
  • Trouble with balance and coordination
  • Numbness or tingling in the extremities
  • High foot arches or flat feet
  • Foot drop (difficulty lifting the front part of the foot)
  • Difficulty gripping objects or using fine motor skills

Some people experience symptoms as early as infancy, while others may not notice changes until adulthood.

CMT symptoms found in babies:

  • Trouble grasping and holding things
  • Taking longer to hold their head up, sit, crawl, stand and walk
  • Falling more than babies their same age

Less common symptoms of CMT can include sleep apnea, swallowing problems or choking, hearing loss, scoliosis, and breathing problems (from respiratory muscle weakness).

Treatments for Charcot-Marie-Tooth Disease

There is currently no known cure for CMT, but the following can help manage symptoms and improve quality of life:

  • Braces and splints – Provide support for weak ankles and feet
  • Custom shoes and inserts – Help with balance and walking
  • Physical therapy – Keeps muscles strong and flexible
  • Occupational therapy – Strengthens hands for daily tasks like writing or gripping
  • Surgery – Can correct severe joint deformities
  • Pain management – Medications can help with nerve pain
  • Hearing aids – Some forms of CMT affect hearing, and aids can make a big difference

While Cures Currently Do Not Exist for CMT Disease, the Science to Change That Does

Now that scientists know of more than 100 gene mutations that cause CMT, they can work to develop drugs that will target those genes or their functions. Cure CMT is focused on funding CMT research that has the promise to deliver safe and effective treatments for people with all forms of CMT. By pursuing creative and unconventional strategies to advance scientific discovery and partnering with researchers, medical experts, industry leaders and patients, we’re speeding urgently needed progress and answers to families once and for all.