Living with Naxos disease
A rare inherited condition with a heart muscle problem plus woolly hair and thick skin on the palms and soles.
Understanding Naxos disease
The heart condition is arrhythmogenic right ventricular cardiomyopathy, which can cause heart rhythm problems. The skin and hair signs include woolly, kinky hair and palmoplantar keratoderma (thick skin on the palms and soles). GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart muscle disease (cardiomyopathy)
- Irregular or fast heartbeat
- Dizzy spells
- Woolly or kinky hair
- Thick skin on palms and soles
- Sparse scalp hair
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 genetic specialists, heart and blood vessel specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in JUP 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
SADS Foundation and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: SADS Foundation, Children's Cardiomyopathy Foundation
- 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 SADS Foundation 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 lists changes in the JUP gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant; cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities; keratoderma with woolly hair type i; keratoderma with wooly hair type i; keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome; keratosis palmoplantaris with arrhythmogenic cardiomyopathy
Patient organizations
- SADS FoundationNaxos disease · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Naxos disease.
Explore research for Naxos disease
Explore actively recruiting Naxos disease studies with HealthSpark.
Find actively recruiting studies for Naxos disease 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 Naxos disease 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 Naxos disease
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 Naxos disease 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.