Living with Charcot-Marie-Tooth disease type 4J
An inherited nerve condition with variable severity that can start in childhood or adulthood and cause rapidly worsening weakness.
Understanding Charcot-Marie-Tooth disease type 4J
It starts anywhere from childhood to adulthood. Features include delayed motor skills, uneven weakness and wasting in the muscles of the arms and legs (near and far from the center of the body), severe movement problems with milder loss of feeling, and absent reflexes.
Signs & symptoms
GARD doesn't list common symptoms for this condition. Its summary describes these features:
- Delayed motor skills
- Uneven weakness in the arms and legs
- Muscle wasting
- Severe movement problems
- Mildly reduced feeling
- Absent reflexes
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 FIG4 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 FIG4 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 4j; charcot-marie-tooth disease type 4 caused by mutation in fig4; charcot-marie-tooth disease, autosomal recessive, type 4j; charcot-marie-tooth disease, demyelinating, type 4j; charcot-marie-tooth neuropathy type 4j; cmt4j
Patient organizations
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 4J · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 4J · 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 4J.
Explore research for Charcot-Marie-Tooth disease type 4J
Explore actively recruiting Charcot-Marie-Tooth disease type 4J studies with HealthSpark.
Find actively recruiting studies for Charcot-Marie-Tooth disease type 4J 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 4J 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 4J
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 4J 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.