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 (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

Symptoms Symptoms

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
30%-79% of people have these symptoms
Abnormal sperm motility		0012206
Chronic otitis media	Chronic infections of the middle ear	0000389
Chronic rhinitis		0002257
Chronic sinusitis		0011109
Male infertility		0003251
Nasal obstruction	Blockage of nose Nasal blockage Obstruction of nose Stuffy nose [ more ]	0001742
Nasal polyposis		0100582
Neonatal respiratory distress	Infantile respiratory distress Newborn respiratory distress Respiratory distress, neonatal [ more ]	0002643
Productive cough	Wet cough	0031245
Recurrent otitis media	Recurrent middle ear infection	0000403
Recurrent sinopulmonary infections	Recurrent sinus and lung infections	0005425
5%-29% of people have these symptoms
Atelectasis	Partial or complete collapse of part or entire lung	0100750
Bronchiectasis	Permanent enlargement of the airways of the lungs	0002110
Clubbing	Clubbing of fingers and toes	0001217
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
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
Ectopic pregnancy		0031456
Female infertility		0008222
Lithoptysis		0032543
Peribronchovascular interstitial thickening		0025177
Pulmonary obstruction	Obstructive lung disease	0006536
Pulmonary situs ambiguus		0011617
Recurrent mycobacterial infections		0011274
Situs inversus totalis	All organs on wrong side of body	0001696
Wheezing		0030828
1%-4% of people have these symptoms
Abnormal inferior vena cava morphology		0025576
Anomalous pulmonary venous return		0010772
Asplenia	Absent spleen	0001746
Atrial situs ambiguous		0011539
Double outlet right ventricle		0001719
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Intestinal malrotation		0002566
Persistent left superior vena cava		0005301
Polysplenia	Multiple small spleens	0001748
Respiratory failure		0002878
Rod-cone dystrophy		0000510
Transposition of the great arteries		0001669
Ventriculomegaly		0002119

Showing of 38 |

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

Last updated: 10/1/2020

Cause Cause

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

Inheritance Inheritance

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

Diagnosis Diagnosis

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.

Treatment Treatment

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

Prognosis Prognosis

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

Statistics Statistics

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

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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, 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.

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 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 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

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
E-mail: http://pcdsupport.org.uk/contact-us/
Website: http://www.pcdsupport.org.uk

Organizations Providing General Support

American Lung Association
55 W. Wacker Drive, Suite 1150
Chicago, IL 60601
Toll-free: 1-800-548-8252 (1-800-LUNGUSA)
E-mail: info@lung.org
Website: https://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.

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

Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. Updated Sept 3, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1122/.
Primary ciliary dyskinesia. Genetics Home Reference (GHR). Updated Apr 2014; http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia.
Primary Ciliary Dyskinesia. National Organization for Rare Disorders (NORD). Updated 2015; https://rarediseases.org/rare-diseases/primary-ciliary-dyskinesia/.
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.
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/.
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.
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.