Living with Charcot-Marie-Tooth disease type 4
A group of inherited nerve conditions, starting in infancy or childhood, that cause weakness and foot and spine differences.
Understanding Charcot-Marie-Tooth disease type 4
It causes weakness that is usually worst in the muscles farthest from the center of the body, but sometimes also those closer in. The most common symptoms are walking trouble with a high-stepping walk or high foot arches. Hammertoes and scoliosis are often seen. It starts in infancy or childhood.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its summary describes these features:
- Walking trouble with a high-stepping walk
- High foot arches (pes cavus)
- Hammertoes
- Curved spine (scoliosis)
- Weakness in the hands and feet
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association and Muscular Dystrophy Association 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: Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association, Muscular Dystrophy Association
- 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 Hereditary Neuropathy Foundation Inc. 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
Quick facts
GARD says changes in genes cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent. No specific gene is listed.
Also known as: ar-cmt1; autosomal recessive demyelinating charcot-marie-tooth; charcot-marie-tooth disease, type iv; charcot-marie-tooth, type 4; cmt4
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 4 · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 4 · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 4 · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 4 · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Charcot-Marie-Tooth disease type 4.
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