What is Primary Ciliary Dyskinesia (PCD)?

PCD is a rare, inherited (genetic) condition that affects tiny, hair-like structures called cilia. These cilia line many parts of the body, including the nose, sinuses, lungs, ears (eustachian tubes), reproductive organs, and parts of the brain.

Computer, thinking and doctor asian woman in hospital at night for medical, research or learning. Healthcare, mri scan on screen with young medicine professional in office of clinic for neurology

In healthy people, motile (moving) cilia help keep the airways clean by working with mucus to trap and remove dust, bacteria, and other particles. This process is called mucociliary clearance, and it’s essential for maintaining healthy lungs and sinuses. When cilia don’t work properly—as in PCD—this system breaks down, leading to chronic illness. PCD is similar in some ways to cystic fibrosis, another genetic disease that disrupts mucociliary clearance.

Cilia also play a key role in early development by helping to position the body’s organs correctly. When ciliary movement is disrupted, it can cause congenital abnormalities. About half of people with PCD have a condition called situs inversus totalis, where the internal organs are mirrored from their usual positions. Others may have more complex organ placement issues, such as heterotaxy or situs ambiguus, which can involve heart defects, abnormal blood vessels, and problems with the spleen, kidneys, liver, or pancreas.

Normal Cilia vs. PCD Cilia

Watch: A side-by-side comparison of normal cilia vs. dyskinetic (PCD) cilia.

What Does PCD Cause?

People with PCD have lifelong respiratory problems, including chronic infections in the lungs, sinuses, and ears. Over time, these infections can cause permanent damage. Some people may eventually experience respiratory failure.

PCD can also cause:

Infertility in most males
Sub-fertility or increased risk of ectopic pregnancy in some females
Hearing loss from chronic ear infections

The video below shows how cilia function normally compared to those affected by a common genetic mutation in PCD (DNAH5). However, not all PCD cases show visibly abnormal cilia movement, so diagnosis depends on specialized testing of cilia structure—not just how they move.

Common Features of PCD

Breathing problems at birth – can sometimes be life-threatening
Organs in unusual positions (such as situs inversus or heterotaxy)
Chronic cough – often starting in infancy
Excess mucus and frequent lung infections
Bronchiectasis – scarring or widening of the airways over time
Ongoing sinus infections (sinusitis), often beginning in early childhood
Frequent ear infections and congestion during childhood
Hearing loss – usually conductive in children, sometimes neurogenic in adults
Fertility issues – infertility in most males; reduced fertility or ectopic pregnancy risk in some females

Long-term Outlook

PCD affects individuals from birth and can severely impact quality of life.

The severity and progression of the disease vary—some people experience serious lung damage early, while others live into their 50s, 60s, or even 70s. However, the condition is progressive and significantly shortens expected lifespan compared to the general population.

For more detailed information, visit Living with PCD.