Living with Ciliary dyskinesia with transposition of ciliary microtubules
A rare inherited condition of the tiny hair-like cilia that causes long-term sinus and lung problems.
Understanding Ciliary dyskinesia with transposition of ciliary microtubules
It involves a difference in the number 1 doublet microtubule in the cilia. It can cause structural differences in the nose and airway cilia of males and females and in the sperm of males. Some cilia movement may remain, so GARD says it is distinct from immotile cilia syndrome.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes:
- Chronic sinus and lung disease
- Differences in the cilia of the nose and airways
- Differences in sperm
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 this condition as autosomal recessive, so a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ciliary dyskinesia with transposition of ciliary microtubules.
Explore research for Ciliary dyskinesia with transposition of ciliary microtubules
Explore actively recruiting Ciliary dyskinesia with transposition of ciliary microtubules studies with HealthSpark.
Find actively recruiting studies for Ciliary dyskinesia with transposition of ciliary microtubules 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 Ciliary dyskinesia with transposition of ciliary microtubules 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 Ciliary dyskinesia with transposition of ciliary microtubules
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 Ciliary dyskinesia with transposition of ciliary microtubules 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.