Understanding Charcot-Marie-Tooth Disease: Symptoms, Treatment, and Hope

Introduction:

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited nerve disorders, but many people have never heard of it.  Charcot-Marie-Tooth is pronounced shark-oh Marie Tooth and was named after the physicians who first described this condition. Even though it has a long name, understanding it doesn’t have to be confusing. Let’s break down what CMT is, how people get it, what symptoms to look for, and what treatments are available today.

What Is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease, or CMT, is a neuromuscular disorder, meaning it affects both nerves and muscles. It is a genetic condition caused by genomic alterations. It is almost always inherited and tends to run in families.

The group of nerves affected is called the peripheral nerves—the nerves that carry information between your brain or spinal cord and the rest of your body. When these nerves do not work correctly, your muscles and sensation (feelings in your legs, feet, arms, and hands) can be affected. There are different types of CMT, along with various subtypes. The symptoms, severity, and age at onset vary by CMT type.

Common symptoms of CMT include:

• Weakness in the feet, legs, or hands
• High arches or flat feet
• Trouble walking or balancing
• Numbness or tingling

How Do I Know If I Have CMT?

Symptoms often begin in childhood, teenage years, or early adulthood, but they can appear at any age. You may wonder about CMT if you:

• Trip or twist your ankles often
• Have difficulty lifting the front of your foot when walking (“foot drop”)
• Have high arches or hammertoes
• Have trouble with grip strength or hand coordination
• Notice thinning of the lower legs or hands due to muscle weakness

Before being diagnosed with CMT, patients may notice that they are slow walkers and often can’t keep up with the group’s pace. They tend not to excel at sports and may be characterized as accident-prone or clumsy. Running is particularly challenging. They may notice a gait abnormality because weak muscles in their legs and feet require greater effort to lift their feet. As their feet are lowered during walking, they lose control, causing them to strike the ground in a rapid, uncontrolled manner. This is called foot drop.

Physical changes can also occur, such as a toe bent downward (hammertoe) or an arch that is either flat or very high. All of these together make walking difficult. However, the vast majority of persons with CMT can still walk, despite these challenges.

Symptoms of CMT tend to progress slowly over many years.

How is CMT Diagnosed?

All diagnoses begin with a detailed history and physical examination, usually by your primary care doctor. If your primary care doctor is concerned you may have CMT, they will likely refer you to a neurologist. A neurologist, particularly one specializing in neuromuscular disorders, is typically the most appropriate specialist to diagnose CMT.

Doctors may diagnose CMT with:

• Nerve conduction studies (NCS): NCS assess the speed at which electrical impulses travel along nerves.
• Electromyography (EMG): EMG studies the health of a muscle or a group of muscles.
• Genetic testing: Because there are numerous types and subtypes of CMT, genetic testing is not always performed.
• Nerve Biopsy- a small portion of the muscle is cut out and examined microscopically.
• Physical and neurological exams

How Do I Get CMT?

There is nothing you did or did not do to get CMT. CMT is caused by genetic mutations—changes in genes that affect how nerves function. These mutations are usually inherited from a parent, but sometimes they occur spontaneously. These spontaneous occurrences are called de novo mutations.

There are many types and subtypes of CMT, each caused by changes in different genes.

Can I Pass CMT On to My Children?

Yes, CMT can be inherited by future generations, but the likelihood depends on the specific genetic subtype. There are different inheritance patterns, including:

• Autosomal dominant (one parent with the mutation can pass it on)
• Autosomal recessive (both parents must carry the gene)
• X-linked (passed through the X chromosome)

A genetic counselor can explain your personal risks and testing options.

How Does CMT Affect My Reproductive Health?

Your menses and fertility will not be affected by CMT. If you have CMT and are pregnant, your primary obstetrician will likely manage your pregnancy in conjunction with a high-risk obstetrician called a perinatologist or MFM physician. Besides this, your pregnancy will be managed as if you did not have CMT.

You will likely be counseled about being extra careful to avoid falls, as this can be consequential to your pregnancy outcome. Your labor process should not be impacted, and your indication for c/section will remain the same as the woman who does not have CMT.

However, pregnancy can cause a worsening of the symptoms of CMT. This is suspected to be caused by elevated progesterone hormonelevels. In fact, one therapy currently under investigation for CMT includes medications that reduce the level of the hormone progesterone in the body.

How is CMT Treated?

Although there is no cure yet, many therapies help people live active and independent lives:

• Physical therapy — strengthens muscles, maintains flexibility
• Occupational therapy — improves hand function and daily tasks
• Ankle Foot Orthotics — devices that help with balance and foot drop
• Pain management — medications or non-drug approaches
• Orthopedic surgery — used in some instances to correct foot deformities

The goal of therapy is to assist in restoring normal muscle function, reducing the risk of injury and pain, and ultimately contributing to long-term independence.

Avoidance of substances that may exacerbate the condition is an essential component of treatment. As such, it is critical to let all your providers and your pharmacist know of your condition. Some known medications can worsen the symptoms of CMT. Also, routine and frequent testing for conditions that can exacerbate symptoms of CMT, such as diabetes, is essential.

Are There Natural or Alternative Treatments?

Currently, there is no cure for CMT, whether in traditional or alternative medicine. However, some lifestyle factors can impact the condition.

Lifestyle choices that may impact CMT include:

• Low-impact activities like swimming, cycling, or yoga
• Stretching to reduce stiffness
• Proper nutrition to support muscle and nerve health
• Avoiding excessive alcohol, which can damage nerves
• Avoiding medications known to cause nerve injury (your neurologist can help guide this)

These approaches should support, not replace, medical treatment. Vitamin C (ascorbic acid) and curcumin (a substance found in turmeric) are natural compounds that are currently being investigated as potential treatments.

Is CMT Curable?

CMT is not curable yet, but major research is underway, including gene therapy studies and medications aimed at slowing or stopping nerve damage.

Will CMT Affect My Life Expectancy?

No. Most people with CMT have a normal life expectancy. The condition affects nerves and muscles but usually does not damage the heart, lungs, or brain.

While CMT can cause physical challenges, pain, and disability for some people, it is not considered a life-threatening disease. Many individuals with CMT attend school, play sports, build careers, have families, and lead full lives.

Written by: Dayna Smith, MD, FACOG | Reviewed: December 16, 2025 | Copyright: myObMD, 2025

Additional Resources:

• National Institute of Neurological Disorders and Stroke (NINDS) — CMT Overview
  
• Muscular Dystrophy Association (MDA) — CMT
• Hereditary Neuropathy Foundation
• Charcot-Marie-Tooth Association