The estimated prevalence of PCD in the general population is 1 in 10,000 to 20,000. It is likely underdiagnosed because some of the symptoms such as chronic cough or congestion are common and nonspecific. PCD occurs worldwide in all ethnic groups, although increased prevalence may occur in populations where there are high rates of consanguinity (marriage between relatives).

PCD is a genetic disorder, most commonly inherited in an autosomal recessive pattern (see RareShare guide on genetic inheritance) where both parents carry a gene mutation. Variants in over 50 genes for cilia structure and function can be involved, including DNAH5, DNAI1, CCDC39, and CCDC40. Mutations in the DNAH5 and DNAH11 genes account for approximately 33 percent of all cases of primary ciliary dyskinesia. These genes provide instructions for producing a complex of proteins called dynein. Dynein makes up the structural arms within cilia that generate the force needed for movement. Defects can lead to abnormal cilia beat frequency, pattern, or complete lack of motility. Rare cases can show an autosomal dominant or X-linked inheritance pattern. As motile cilia play a role in organ placement during embryonic development, laterality defects, where organs are positioned on an opposite side of the body, can occur in up to 40% of patients.

Symptoms often appear shortly after birth and persist throughout life. They may include the following:

.Respiratory 

• Neonatal Respiratory Distress: Unexplained breathing difficulties in full-term newborns (requiring oxygen) occurs in >80% of cases.

• Chronic Wet Cough: A productive cough that starts in infancy and never goes away.

• Recurrent Infections: Frequent pneumonia, bronchitis, and sinusitis.

• Bronchiectasis: Permanent widening and scarring of the airways due to repeated infections; seen in many adults and older children.

Ear, Nose, and Throat (ENT)

• Chronic Runny Nose: Constant nasal congestion starting from birth.

• Recurrent Otitis Media: Chronic middle ear infections, often leading to temporary or permanent hearing loss (conductive hearing loss).

Other Manifestations

• Situs Inversus Totalis: Approximately 40% of people with PCD have their internal organs (heart, liver, stomach) in a mirror-image position;  when present with chronic sinusitis and brochiectasis, this is termed Kartagener syndrome.

• Heterotaxy: A more complex randomization of organ placement (e.g., polysplenia or asplenia), occurring in ~12% of cases.

• Fertility Issues:

• Males: Infertility is common because sperm tails (flagella) are structurally similar to cilia and may be unable to swim.

Females: Reduced fertility may occur due to ciliary dysfunction in the fallopian tubes, increasing the risk of ectopic pregnancy.

PCD diagnosis requires a multimodal approach, combining characteristic clinical features with specialized investigations.

Clinical evaluation

• Suspicion is raised by:

  • Full-term newborn with unexplained respiratory distress.

  • Chronic daily wet cough and nasal congestion starting in the first year of life.

  • Recurrent otitis media, chronic sinusitis, and/or bronchiectasis, especially with organ laterality defects or family history of PCD.

• Clinical prediction tools (such as the “PICADAR” questionnaire) can estimate the likelihood of PCD based on key features.​

Diagnostic tests

• Measurement of nasal nitric oxide (nNO): typically very low in PCD, used as a sensitive screening test in cooperative patients ≥5 years in age.

• High‑speed video microscopy of ciliary beat pattern and frequency from nasal or bronchial epithelial brushings.

• Transmission electron microscopy to assess ciliary ultrastructure, though some genetically confirmed cases have normal ultrastructure.

• Genetic testing panels for known PCD genes, which can confirm the diagnosis in many but not all patients.

• Chest CT to evaluate bronchiectasis and sinus CT for chronic sinus disease.

• Audiologic assessment for hearing loss and echocardiography for associated congenital heart disease when indicated.

There is currently no cure for PCD that corrects the underlying ciliary defect, so treatment focuses on controlling infection, managing symptoms and preventing complications. Along these lines, the following may be done:

• Daily, lifelong airway clearance therapy (may include controlled breathing techniques and use of mechanical devices)

• Prompt treatment of respiratory infections with appropriate antibiotics

• Regular surveillance by pulmonology, ENT, and audiology

• Management of otitis media (hearing aids preferred over repeated tympanostomy tubes in many cases)

• Vaccinations, including influenza and pneumococcal vaccines.

The above management approach parallels care models for cystic fibrosis in many ways. 

Advanced or supportive care may also include:

• Regular lung sputum cultures and function monitoring

• Oxygen therapy or non‑invasive ventilation in advanced lung disease

• Lung transplantation may be considered to address respiratory failure

• Fertility counseling and assisted reproductive techniques for affected adults who desire children

• Multidisciplinary care in centers experienced with PCD is recommended to optimize outcomes.

With early diagnosis and appropriate care, individuals with PCD can have a normal or near-normal life expectancy. Quality of life can be impacted by the burden of daily treatments, chronic fatigue or hearing loss. Early treatment is important in the prevention of bronchiectasis (irreversible lung damage).

1. Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics. 2018. “Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.” Am J Respir Crit Care Med. 197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST. PMID: 29905515; PMCID: PMC6006411.

2. Primary Ciliary Dyskinesia Foundation, What is primary ciliary dyskinesia?.

3. MedilinePlus Genetics, Primary ciliary dyskinesia.