Primary Ciliary Dyskinesia
In a nutshell
Primary Ciliary Dyskinesia (PCD) is the only known disorder of the motile cilia. It is an autosomal recessive condition affecting the lungs, sinuses and ears, presenting with upper and lower respiratory tract infections. The incidence is about 1 in 7,500, and more than 50 different genes have been found to cause it. It is managed by physiotherapy and targeted antibiotics; if PCD is not diagnosed, there is a risk of permanent lung damage.
Primary Ciliary Dyskinesia (PCD) is the only known disorder of the motile cilia. However, dysfunction of motile cilia is implicated in several primary cilia ciliopathies - but these links are not yet well established. PCD is an autosomal recessive disorder which presents with upper and lower respiratory tract infection, and affects the lungs, sinuses and ears. Other features of PCD reflect dysfunction of cilia motility outside the airways, including subfertility, hydrocephalus and body laterality (left-right axis) defects. Some rare cases have retinal and neurological problems.
The incidence is 1 in 7500 . However, the incidence can be as high as 1 in 2,500 in the Asian population and other areas where consanguineous marriages are prevalent.
Recent studies have begun to locate PCD genes scattered throughout the genome, making it a heterogeneous condition. More than 50 different genes have been found to cause PCD, either with recessive inheritance and more rare X-linked-recessive inheritance.
PCD affects both sexes and all populations. It is managed by physiotherapy and targetted antibiotics.
Symptoms of PCD
- Chronic respiratory infection
- Bronchiectasis
- Progressive loss of lung function
- Nasal problems
- Sinus disease
- Hearing loss
- Male infertility
- Hydrocephalus
- 50% laterality defects
- Heart defects 6-17 %
- Ectopic pregnancy
Impact of PCD
Affected individuals will experience lifelong chronic lung disorders and will typically need:
- Twice daily physiotherapy
- Targeted antibiotics either orally or intravenously
If PCD is not diagnosed, there is a risk of permanent lung damage.
Hearing and fertility problems are common.
How is PCD diagnosed?
PCD arises from cilia dysmotility associated with cilia structural defects or lack of cilia, that can usually be detected using specialised microscopy. Screening tests for PCD include nasal nitric oxide and tests of ciliary motility by high speed video imaging of nasal cells. Specific diagnosis requires examination of cilia by light and electron microscopy, with epithelial culture in doubtful cases. Genetic testing is increasingly used to assist PCD diagnosis especially since up to a fifth of cases may not show any obvious structural cilia defects.
Find out more about Primary Ciliary Dyskinesia
Useful links
Kartagener Syndrom und Primäre Ciliäre Dyskinesie
Primary Ciliary Dyskinesia Foundation
Last reviewed: August 2026