Charcot Marie Tooth Disease: Causes, Symptoms, and Treatment
Medically reviewed by Sumiran Racherla, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Charcot Marie Tooth Disease?
A neurologist (a doctor who treats nerve conditions) usually cares for people with Charcot Marie Tooth Disease. A geneticist (a doctor who treats inherited conditions) and a physical therapist (a movement expert) often help too. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Charcot Marie Tooth Disease?
Charcot Marie Tooth Disease is a group of disorders that damage the nerves used for muscle movement and feeling. These are called peripheral nerves. They connect the brain and spinal cord to muscles and to cells that sense touch, pain, and heat.
The nerve damage gets worse over time. It can change feeling and waste away muscles in the feet, legs, and hands. This disease is the most common inherited disorder of the peripheral nerves. It affects about 1 in 2,500 people. Most people with it have a normal life expectancy, meaning a usual life span.
Symptoms
Muscle weakness usually starts in the feet and lower legs. Signs usually appear in childhood or the teen years, but they may begin any time between early childhood and late adulthood. Common signs include:
- Muscle weakness and shrinking, often in the feet first and later in the hands.
- Foot changes like high arches, flat feet, or curled toes (hammer toes).
- Foot drop, which is trouble lifting the foot, and a high-stepping walk with tripping or falls.
- Less feeling for touch, heat, and cold in the feet and lower legs.
- Muscle cramps and nerve pain.
- A curved spine (scoliosis).
How bad symptoms get differs widely, even among family members with the same gene change. In rare cases, people have hearing or vision loss. Also in rare cases, breathing difficulties may happen if the nerves that control the diaphragm, the main breathing muscle, are affected.
Causes and who gets it
Changes in dozens of different genes can cause this disease. Genes are the body's instructions for making proteins. In this condition, the changed genes affect myelin, the coating that helps nerve signals travel fast, or the axon, the long part of the nerve cell that carries signals. This slows or weakens the signals. More than 100 genes are linked to the disease.
There are three main inheritance patterns. With autosomal dominant, one changed gene from either parent is enough. With autosomal recessive, both copies of the gene must change. With X-linked, the changed gene sits on the X chromosome, one of the two sex chromosomes. About 10 percent of cases come from a new gene change, and these people typically have no family history of the disorder. A family history raises your risk, but it does not mean your children will have it.
How doctors diagnose it
Doctors start with a detailed medical and family history. They look for muscle weakness, smaller muscles, slower tendon reflexes, and sensory loss. Tests can include nerve conduction studies (tests that check how signals travel in nerves) and EMG (electromyography, a muscle and nerve test). Genetic testing is one of the tests doctors may order. A specialist, such as a neurologist, may be needed to confirm the diagnosis.
Treatment
There is no cure, but treatments can help manage symptoms. Starting care soon after symptoms begin can help people keep their quality of life. It is important to keep mobility, flexibility, and muscle strength as much as possible. Physical and occupational therapy may help with symptoms of CMT. Braces and other orthopedic devices, which are supports for weak joints, can help people stay mobile. High-top shoes or boots can support weak ankles, and thumb splints can help hand weakness. Using devices like these early may prevent muscle strain and reduce muscle weakening.
Doctors may prescribe medicine for severe nerve pain. Some people may also have orthopedic surgery to help with symptoms of CMT.
When to see a doctor
See a doctor if you notice muscle weakness, foot changes, or frequent tripping. Call 911 if you have trouble breathing. Breathing difficulties may happen if the nerves that control the diaphragm are affected, and severe weakness or complications may be life-threatening in rare cases. If the disease runs in your family, you can also talk to a doctor about the chance of passing it to a child.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This doctor can be your main point of contact, can order tests or refer you to specialists, and can help coordinate care with your other doctors.
Common questions
Is Charcot Marie Tooth Disease passed down in families?
Yes. Most cases are inherited in one of three ways: autosomal dominant, autosomal recessive, or X-linked. About 10 percent of cases come from a new gene change, and these people typically have no family history of the disorder.
Does Charcot Marie Tooth Disease shorten life?
Usually not. Most people with the disease have a normal life expectancy. A small number develop severe weakness or other problems that may be life-threatening in rare cases.
Do people with Charcot Marie Tooth Disease need a wheelchair?
Usually not. Most people with it rarely need a wheelchair. Braces, orthotics, and other supports can help many people keep moving.
Can Charcot Marie Tooth Disease be cured?
No. There is no cure, but treatments can help manage symptoms. Physical and occupational therapy and braces may help with symptoms of CMT. Doctors may also prescribe medicine for severe nerve pain.
Sources
- MedlinePlus Genetics - Charcot-Marie-Tooth disease
- NIH Genetic and Rare Diseases Information Center - Charcot-Marie-Tooth disease
- National Institute of Neurological Disorders and Stroke - Charcot-Marie-Tooth Disease
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
