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Neuromuscular diseases

Charcot-Marie-Tooth disease (CMT)

A group of inherited diseases that affect the nerves in the arms and legs. It causes weakness and loss of feeling in the feet, legs and hands. It progresses slowly.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

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This page is translated from the Turkish original.

This disease is followed through the “Neuromuscular diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The nerves outside the brain and spinal cord, called peripheral nerves, are damaged. These nerves carry commands to the muscles and carry senses such as touch to the brain. In the disease, the covering of the nerve or the nerve fiber itself breaks down. Because the longest nerves are affected first, symptoms begin in the feet.

Which symptoms can occur?

Symptoms often begin between the ages of 5 and 15. Severity varies greatly from person to person.

  • High foot arches, flat feet or hammer toes
  • Being unable to lift the front of the foot, called foot drop
  • Frequent tripping and sprained ankles
  • Muscle wasting in the lower legs, thin calves
  • Numbness in the feet and legs, feeling heat and cold less
  • Later, weakness in the hands; difficulty doing up buttons
  • Burning or aching nerve pain (sometimes)

How is it diagnosed?

The doctor examines muscle strength, reflexes and feeling. Nerve conduction tests help tell the type of the disease. A genetic test can be done for most types.

Treatment and care

There is not yet an approved treatment specific to the disease; research is ongoing. Physiotherapy and suitable exercise help maintain muscle strength. Occupational therapy makes daily tasks easier. Orthoses, special shoes and walking aids make walking easier. Surgery may be needed for foot deformities. Areas with loss of feeling are protected from injury. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The pattern of inheritance depends on the type. The most common types are passed on through dominant inheritance; for each child of an affected parent, the chance is 1 in 2. Some types are passed on through recessive inheritance; for a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. In the X-linked type, males are usually more severely affected. In about 10% of cases, the change does not come from the family. Genetic counselling helps the family understand the risk.

Source: MedlinePlus Genetics: Charcot-Marie-Tooth disease · NHS: Charcot-Marie-Tooth disease · MedlinePlus Medical Encyclopedia: Charcot-Marie-Tooth disease

Key facts

When does it usually start?
Any age

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about CMT

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 19 active interventional studies for this disease. 14 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Neuromuscular diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:166 · ICD-11 8C20

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.