Living with Charcot-Marie-Tooth disease type 4H
An inherited nerve condition that starts before age 2, with delayed walking, unsteady gait, and slowly worsening weakness.
Understanding Charcot-Marie-Tooth disease type 4H
It causes slowly worsening nerve damage, with delayed walking, unsteady gait, weakness and wasting in the hands and feet (more in the legs), absent reflexes, and mild numbness. Bone differences such as curved spine, short neck, and foot differences are common. Nerve signals are very slow.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed motor skills
- Absent tendon reflexes
- Clubfeet
- Numbness (hypoesthesia)
- Curved spine (scoliosis)
- Small muscle bulk at the edge of the hand
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.
- 3Consider genetic testing
Changes in FGD4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect 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
Quick facts
Changes in the FGD4 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive charcot-marie-tooth disease type 4h; autosomal recessive demyelinating charcot-marie-tooth disease type 4h; charcot-marie-tooth disease type 4 caused by mutation in fgd4; charcot-marie-tooth disease, autosomal recessive, type 4h; charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4h; charcot-marie-tooth disease, demyelinating, type 4h
Patient organizations
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 4H · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 4H · 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 4H.
Explore research for Charcot-Marie-Tooth disease type 4H
Explore actively recruiting Charcot-Marie-Tooth disease type 4H studies with HealthSpark.
Find actively recruiting studies for Charcot-Marie-Tooth disease type 4H 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Charcot-Marie-Tooth disease type 4H studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Charcot-Marie-Tooth disease type 4H
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Charcot-Marie-Tooth disease type 4H experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.