Living with Primary ciliary dyskinesia
An inherited condition in which tiny hair-like cilia work poorly, causing long-lasting lung, sinus and ear infections and sometimes fertility problems.
Understanding Primary ciliary dyskinesia
It is caused by abnormal cilia and flagella. Cilia are tiny finger-like projections on cells that help move fluid and particles. Most babies have breathing trouble at birth. Children have year-round stuffy nose and a chronic cough from the first year, and frequent lung infections that can lead to bronchiectasis (damaged airways). Ear infections are common and can lead to hearing loss if untreated.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breathing trouble in newborns
- Constant stuffy nose and sinus infections
- Wet cough and repeated lung infections
- Repeated ear infections
- Nasal polyps
- Male infertility
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, lung and breathing specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Primary Ciliary Dyskinesia (PCD) Foundation, Immune Deficiency Foundation and Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Primary Ciliary Dyskinesia (PCD) Foundation, Immune Deficiency Foundation, Resolve: The National Infertility 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 Primary Ciliary Dyskinesia (PCD) 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 says changes in genes cause this condition but doesn't name one gene in this record. It can be inherited in autosomal dominant, autosomal recessive or X-linked patterns.
Also known as: ciliary dyskinesia; ciliary motility disorder; immotile ciliary syndrome; kartagener's syndrome; lack of coordinated beating of respiratory cilia; pcd
Patient organizations
- Primary Ciliary Dyskinesia (PCD) FoundationPrimary ciliary dyskinesia · United States
- Immune Deficiency FoundationPrimary ciliary dyskinesia · United States
- American Lung AssociationPrimary ciliary dyskinesia · United States
- COPD FoundationPrimary ciliary dyskinesia · Resolve: The National Infertility Association
You are more than your diagnosis
Perspectives from people navigating life with Primary ciliary dyskinesia.
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