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Living with Charcot-Marie-Tooth disease type 2

A group of inherited nerve conditions in which the long fibers (axons) of nerve cells are damaged.

Understanding Charcot-Marie-Tooth disease type 2

Charcot-Marie-Tooth disease type 2 is a form of Charcot-Marie-Tooth disease in which the axons (the long fibers) of peripheral nerve cells are abnormal.

GARD says it can start at any time in life. GARD does not list other details.

Signs & symptoms

GARD doesn't list specific symptoms for this condition yet.

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include brain and nervous system specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    Charcot-Marie-Tooth Association and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.

Care & treatment

Care team
Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
Expert care
Expert lists: Charcot-Marie-Tooth Association, The Foundation for Peripheral Neuropathy
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with Charcot-Marie-Tooth Association and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Which subtype of Charcot-Marie-Tooth type 2 do I have?
Can genetic testing confirm the subtype?
What therapy can help with strength and walking?

Quick facts

Symptoms usually startany time in life
InheritanceAutosomal Dominant

GARD says changes in genes cause this condition. It is listed as inherited in an autosomal dominant way, so one changed copy of a gene can cause it. No specific gene is listed.

GeneticNeurological

Also known as: autosomal dominant axonal charcot-marie-tooth disease; autosomal dominant charcot-marie-tooth disease type 2; charcot marie tooth disease, type 2; charcot-marie-tooth disease, type ii; charcot-marie-tooth, type 2; cmt2

Patient organizations

Source: NIH GARD · Charcot-Marie-Tooth disease type 2GARD ID 12431 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Charcot-Marie-Tooth disease type 2.

Explore the Charcot-Marie-Tooth disease type 2 blog

Explore research for Charcot-Marie-Tooth disease type 2

Explore actively recruiting Charcot-Marie-Tooth disease type 2 studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Charcot-Marie-Tooth disease type 2 with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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