National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Primary ciliary dyskinesia


Other Names:
Ciliary dyskinesia primary; Polynesian bronchiectasis; Immotile cilia syndrome; Ciliary dyskinesia primary; Polynesian bronchiectasis; Immotile cilia syndrome; ICS See More
Categories:
Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells, known as cilia. Cilia are present on many types of cells, and particularly on those in the respiratory tract. In PCD, the cilia are abnormal, and don’t move correctly. People with this disorder cannot clear the mucous and fluid in their lungs and airways. This leads to frequent respiratory infections, and continuous nasal congestion and coughing. In addition, because cilia are involved in how the organs form and develop, many people with PCD may have abnormal placement of the organs in the body, known as situs abnormalities.[1][2][3] For example, their heart may be on the right side of their chest instead of the left.  Almost all males with PCD are infertile.

PCD is caused by mutations in one of over 30 different genes involved in the formation of cilia, and is usually inherited in an autosomal recessive pattern in families. It is diagnosed based on the clinical symptoms. Other diagnostic tests may include ciliary analysis and genetic testing. Treatment is based on taking care of the symptoms. The long-term outlook for people with PCD depends on the severity of the symptoms.  People with frequent lung infections may experience permanent lung damage and require lung transplant. Early diagnosis and treatment may improve the long-term outlook for people with PCD.[4][5]

Last updated: 1/9/2019
Primary ciliary dyskinesia (PCD) causes respiratory disease that occurs in the lungs, nasal and sinus passages and ear canals. This leads to continuous nasal congestion and coughing. More than 75% of full-term infants with PCD have trouble breathing right after birth (neonatal respiratory distress) and require extra oxygen. On-going (chronic) airway infections begin in early childhood and can lead to permanent damage (bronchiectasis). Nasal congestion, sinus infections, and ear infections also begin in early childhood and continue throughout adulthood. Nearly all people with PCD will cough frequently.[5][6]

About 50% of people with PCD will have abnormalities in the placement of their body organs, known as situs abnormalities.[6] An example is having the heart on the right side of the chest instead of the left side. Situs abnormalities can include situs inversus totalis  (mirror-image reversal of the internal organs with no apparent symptoms) or heterotaxy, where the organs are abnormally arranged. People with heterotaxy often have congenital heart defects. Almost all males with PCD are infertile because of  abnormal movement of the sperm. The symptoms of PCD can vary and not everyone with PCD has the same symptoms.[5][6]

Last updated: 1/9/2019

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Immotile cilia 0012263
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
30%-79% of people have these symptoms
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Chronic bronchitis 0004469
Chronic otitis media
Chronic infections of the middle ear
0000389
Chronic sinusitis 0011109
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ] 		0000405
Cough
Coughing
0012735
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Impaired nasal mucociliary clearance 0031603
Pneumonia 0002090
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Rhinitis
Nasal inflammation
0012384
Situs inversus totalis
All organs on wrong side of body
0001696
Tachypnea
Increased respiratory rate or depth of breathing
0002789
5%-29% of people have these symptoms
Asplenia
Absent spleen
0001746
Asthma 0002099
Atelectasis
Partial or complete collapse of part or entire lung
0100750
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ] 		0100759
Corneal dystrophy 0001131
Ectopic pregnancy 0031456
Glue ear 0040262
Halitosis
Bad breath
0100812
Headache
Headaches
0002315
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Infertility 0000789
Nasal polyposis 0100582
Pectus excavatum
Funnel chest
0000767
Pulmonary obstruction
Obstructive lung disease
0006536
Reduced sperm motility 0012207
Scoliosis 0002650
Spontaneous abortion 0005268
Ventriculomegaly 0002119
Showing of 33 |
Last updated: 7/1/2020
Primary ciliary dyskinesia (PCD) results from mutations in over 30 different genes.[1][5][6]These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Proper movement of cilia is necessary for the normal functioning of many organs and tissues. The movement of cilia also helps organ placement during embryonic development. Mutations in the genes that cause PCD result in defective cilia that move abnormally or are unable to move (immotile).[6] Because cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms. About 70% of people with PCD will have a mutation that can be identified by genetic testing.[1][4][6]
Last updated: 1/10/2019
Most cases of primary ciliary dyskinesia (PCD) are inherited in an autosomal recessive pattern.[1][2][3] All individuals inherit two copies of each gene. To have PCD, a person must have a mutation in both copies of the responsible gene in each cell. There is nothing either parent can do, before or during a pregnancy, to cause a child to have this. 

People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:

25% (1 in 4) chance to have the disorder
50% (1 in 2) chance to be an unaffected carrier like each parent
25% (1 in 4) chance to be unaffected and not be a carrier

Very rarely, PCD is inherited in an X-linked recessive pattern.[4][5]

Last updated: 1/10/2019

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
There is no specific treatment for primary ciliary dyskinesia (PCD).[4][5] Treatment is focused on the symptoms. People with PCD may be treated with chest physical therapy and breathing exercises to help remove excess mucous. Other treatments may include inhalants to help with breathing, and antibiotics to help treat and prevent infections. Surgery may be necessary to correct heart defects, and to remove damaged lung tissue. For people with severe lung and airway damage, lung transplant may be an option. Males with infertility may want to consider using donor sperm or intracytoplasmic sperm injection (ICSI) to have children. People with PCD should avoid smoking and exposure to smoke in general. In addition, regular exercise can strengthen the lungs and may improve lung function.[4][5]
Last updated: 1/10/2019
The long-term outlook for people with primary ciliary dyskinesia (PCD) is dependent on severity of respiratory symptoms. Generally, PCD is not thought to be life-threatening, but severe lung and airway disease can lead to permanent damage. Ear infections that occur frequently can lead to hearing loss, which is sometimes permanent. Early diagnosis and treatment seems to improve long-term outcomes.[4][5]
Last updated: 1/10/2019
It is thought that about 1/16,000 – 1/20,000 people have primary ciliary dyskinesis (PCD). The incidence is higher in Norway and Japan. In the United States, it is estimated that about 12-17 thousand people have PCD.[1]
Last updated: 1/10/2019

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The main differential diagnoses are cystic fibrosis, immunodeficiency syndromes and gastroesophageal reflux. Additionally, PCD has been noted in patients with Cri du chat syndrome due to the common locus on chromosome 5p. Segmental deletion of chromosome 5p in Cri du chat syndrome usually includes PCD-associated gene DNAH5 and the pathogenic variant in the remaining allele of DNAH5 renders it to PCD.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Primary ciliary dyskinesia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Genetic Disorders Of Mucociliary Clearance Consortium is a network of nine North American Centers that are collaborating in diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing on primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism. Additionally, GDMCC studies target related clinical conditions believed to be due to impaired mucociliary clearance, including idiopathic bronchiectasis and infection with non-tuberculous mycobacterial (NTM) organisms. Ultimately, GDMCC hopes to better define the clinical pathogenesis of these important airway diseases, improve or expand diagnostic testing, and develop new and effective treatments.

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Primary ciliary dyskinesia in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Primary ciliary dyskinesia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Can you please provide me with some doctors that specialize in primary ciliary dyskinesia or that have knowledge treating this disorder? See answer

  • Is there a support group for people with primary ciliary dyskinesia?  How many people have been diagnosed with primary ciliary dyskinesia?  What is their work status? See answer


  1. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. Updated Sept 3, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1122/.
  2. Primary ciliary dyskinesia. Genetics Home Reference (GHR). Updated Apr 2014; http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia.
  3. Primary Ciliary Dyskinesia. National Organization for Rare Disorders (NORD). Updated 2015; https://rarediseases.org/rare-diseases/primary-ciliary-dyskinesia/.
  4. Sharpiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel, SD, et al. (The Genetic Disorders of Mucociliary Clearance Consortium). Diagnosis, Monitoring, and Treatment of Primary Ciliary Dyskinesia: PCD Foundation Consensus Recommendations Based on State of the Art Review. Pedia Pulmon. 2016; 51:115-132. https://onlinelibrary.wiley.com/doi/epdf/10.1002/ppul.23304.
  5. Mirra V, Werner C, Santamaria F. Primary ciliary dyskinesia: An update on clinical aspects, genetics, diagnosis, and future treatment strategies. Front Pediatr. Jun 2017; 5:135. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465251/.
  6. Knowles M, Zariwala MA, Leigh M. Primary ciliary dyskinesia. Clin Chest Med. 2016; 37(3):449-461. https://www.ncbi.nlm.nih.gov/pubmed/27514592.
  7. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. October 6, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1122/. Accessed 3/15/2011.