Primary ciliary dyskinesia

Title

Other Names:

Ciliary dyskinesia primary; Polynesian bronchiectasis; Immotile cilia syndrome; Ciliary dyskinesia primary; Polynesian bronchiectasis; Immotile cilia syndrome; ICS See More

Categories:

Congenital and Genetic Diseases; Lung Diseases; Male Reproductive Diseases; Congenital and Genetic Diseases; Lung Diseases; Male Reproductive Diseases; RDCRN See More

Summary Summary

Primary ciliary dyskinesia is a genetic disease which affects the upper and lower airways of the lungs. Through an inherited defective gene, the cilia (tiny hair-like structures that move mucus out of the respiratory passages) in individuals affected by this condition are either immotile (unable to move) or dysmotile (they move incorrectly). As a result, the body is not able to keep the lungs and sinuses clear of fluids, which can lead to congestion, infection, and various other complications.^[1]^[2] Because cilia are also present in the brain and reproductive organs, individuals with primary ciliary dyskinesia may also have chronic headaches, hydrocephalus and infertility.^[1]

Last updated: 5/10/2011

Symptoms Symptoms

Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic oto-sino-pulmonary disease. More than 75% of full-term infants with primary ciliary dyskinesia have 'neonatal respiratory distress' requiring supplemental oxygen. Chronic airway infections begin in early childhood, resulting in bronchiectasis that is almost uniformly present into adulthood. Nasal congestion and sinus infections also begin in early childhood and persist through adulthood. Chronic/recurrent ear infections are present in most young children and can lead to transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 50% of individuals with primary ciliary dyskinesia; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 6%. Approximately 50% of males with primary ciliary dyskinesia are infertile as a result of abnormal sperm motility.^[3]

Last updated: 3/15/2011

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
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2018

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Primary ciliary dyskinesia can result from mutations in at least nine different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs and tissues. The movement of cilia also helps establish the left-right axis (the imaginary line that separates the left and right sides of the body) during embryonic development. Mutations in the genes that cause primary ciliary dyskinesia result in defective cilia that move abnormally or are unable to move (immotile). Because cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms. Mutations in the DNAI1 and DNAH5 genes account for up to 38 percent of all cases of primary ciliary dyskinesia. Mutations in the other genes associated with this condition are found in only a small percentage of cases. In many people with primary ciliary dyskinesia, the cause of the disorder is unknown.^[4]

Click here to view a list of the genes associated with primary ciliary dyskinesia.

Last updated: 3/15/2011

Inheritance Inheritance

Primary ciliary dyskinesia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.^[4]

Last updated: 3/15/2011

Related Diseases Related Diseases

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 (see this term), immunodeficiency syndromes, gastroesophageal reflux, and Wegener's Granulomatosis (see this term). Visit the Orphanet disease page for more information.

Research Research

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 four U.S. centers (University of North Carolina at Chapel Hill, Washington University in St. Louis, University of Washington, and University of Colorado) that are collaborating in the diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing on primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism. Ultimately, this group hopes to better define the clinical pathogenesis of these important airway diseases, improve or expand diagnostic testing, and develop new and effective treatments. To read more about this consortium and their involvement with primary ciliary dyskinesia and Kartagener syndrome, click on the above link.

Patient Registry

The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) has created a patient registry for individuals that have rare airway diseases. You can learn more about the patient registry by clicking on the GDMCC link.

Organizations Organizations

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

Primary Ciliary Dyskinesia (PCD) Foundation
10137 Portland Avenue South
Minneapolis, MN 55420
Toll-free: 1-844-CURE-PCD (1-844-287-3723)
E-mail: info@pcdfoundation.org
Website: http://www.pcdfoundation.org
Primary Ciliary Dyskinesia Family Support Group
Website: http://www.pcdsupport.org.uk

Organizations Providing General Support

American Lung Association
1301 Pennsylvania Ave NW
Suite 800
Washington, DC 20004
Toll-free: 1-800-548-8252
Telephone: 202-785-3355
Fax: 202-452-1805
E-mail: http://www.lung.org/about-us/contact-us.html
Website: http://www.lung.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

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

The American Lung Association has information about Primary ciliary dyskinesia.
Genetics Home Reference (GHR) contains information on Primary ciliary dyskinesia. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.

References References

Primary Ciliary Dyskinesia. American Lung Association. 2011; http://www.lungusa.org/lung-disease/primary-ciliary-dyskinesia/. Accessed 7/12/2011.
Kartagener's Syndrome. Kartagener's Syndrome and Primary Ciliary Dyskinesia Foundation. http://www.kartagener-syndrom.org/cms/index.php/en/deseaseoverview/diseasedefinitions. Accessed 3/15/2011.
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.
Primary ciliary dyskinesia. Genetics Home Reference (GHR). August 2010; http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia. Accessed 7/12/2011.