Primary ciliary dyskinesia

Common Name(s)

Primary ciliary dyskinesia, Immotile Cilia Syndrome

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. Because cilia are also present in the brain and reproductive organs, individuals with primary ciliary dyskinesia may also have chronic headaches, hydrocephalus and infertility.   
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary ciliary dyskinesia" for support, advocacy or research.

PCD Foundation

The mission of the PCD Foundation is to provide the leadership and resources needed to support increased research, accelerated diagnosis, improved health and, ultimately, a cure for primary ciliary dyskinesia.

Last Updated: 24 Oct 2012

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General Support Organizations

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How do you compare to others with this condition?

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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary ciliary dyskinesia" for support, advocacy or research.

PCD Foundation

The mission of the PCD Foundation is to provide the leadership and resources needed to support increased research, accelerated diagnosis, improved health and, ultimately, a cure for primary ciliary dyskinesia.

http://www.pcdfoundation.org

Last Updated: 24 Oct 2012

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General Support Organizations

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General Resources

PCDF Clinical Centers/Path to Clinical Trials Program

To accelerate research in PCD, the PCDF has established a 'Path to Clinical Trials' program consisting of accredited clinical centers for research and a national PCD patient registry.

Uploaded By: PCD Foundation

Updated 23 Oct 2012

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PCD Kid's Booklet

Resource for young children and their parents to help explain PCD

Uploaded By: PCD Foundation

Updated 24 Oct 2012

Open Doc
PCD Fact Sheet

Overview of primary ciliary dyskinesia.

Uploaded By: PCD Foundation

Updated 24 Oct 2012

Open Doc
PCD Brochure in Spanish

Information about PCD in Spanish

Uploaded By: PCD Foundation

Updated 24 Oct 2012

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PCD Brochure in English

Information on primary ciliary dyskinesia.

Uploaded By: PCD Foundation

Updated 24 Oct 2012

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Blogs

PCD Foundation Blog

Updates on foundation activities with expert guest bloggers on occasion

Uploaded by: PCD Foundation

Updated 23 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Primary ciliary dyskinesia" returned 116 free, full-text research articles on human participants. First 3 results:

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.
 

Author(s): Mieke Boon, Anne Smits, Harry Cuppens, Martine Jaspers, Marijke Proesmans, Lieven J Dupont, Francois L Vermeulen, Sabine Van Daele, Anne Malfroot, Veronique Godding, Mark Jorissen, Kris De Boeck

Journal:

 

Primary ciliary dyskinesia (PCD) is a rare disorder with variable disease progression. To date, mutations in more than 20 different genes have been found. At present, PCD subtypes are described according to the ultrastructural defect on transmission electron microscopy (TEM) of the ...

Last Updated: 29 Jan 2014

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Nasal nitric oxide is an important test in the diagnostic pathway for primary ciliary dyskinesia.
 

Author(s): Jane S Lucas, Woolf T Walker

Journal: Ann Am Thorac Soc. 2013 Dec;10(6):645-7.

 

Last Updated: 24 Dec 2013

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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
 

Author(s): Alexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, Chela T James, Miriam Schmidts, Mitali Patel, Elisabeth M Rosser, Chiara Bacchelli, Philip L Beales, Peter J Scambler, Stephen L Hart, Jeannette E Danke-Roelse, John J Sloper, Sarah Hull, Claire Hogg, Richard D Emes, Gerard Pals, Anthony T Moore, Eddie M K Chung, , Hannah M Mitchison

Journal: J. Med. Genet.. 2014 Jan;51(1):61-7.

 

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms and obstructive lung disease, ...

Last Updated: 19 Dec 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Primary ciliary dyskinesia" returned 14 free, full-text review articles on human participants. First 3 results:

Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism.
 

Author(s): Yan-Wei Sha, Lu Ding, Ping Li

Journal: Asian J. Androl.. ;16(1):101-6.

 

Kartagener's syndrome (KS) is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia (PCD). As it is accompanied by many complications, PCD/KS severely affects the patient's quality of life. Therapeutic approaches for PCD/KS ...

Last Updated: 26 Dec 2013

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Picking up speed: advances in the genetics of primary ciliary dyskinesia.
 

Author(s): Amjad Horani, Steven L Brody, Thomas W Ferkol

Journal: Pediatr. Res.. 2014 Jan;75(1-2):158-64.

 

Abnormal ciliary axonemal structure and function are linked to the growing class of genetic disorders collectively known as ciliopathies, and our understanding of the complex genetics and functional phenotypes of these conditions has rapidly expanded. While progress in genetics and ...

Last Updated: 4 Feb 2014

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Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.
 

Author(s): Michael R Knowles, Leigh Anne Daniels, Stephanie D Davis, Maimoona A Zariwala, Margaret W Leigh

Journal: Am. J. Respir. Crit. Care Med.. 2013 Oct;188(8):913-22.

 

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately 50% of cases. The estimated incidence of PCD is approximately 1 per 15,000 births, but the prevalence ...

Last Updated: 16 Oct 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Otolith Function in Patients With Primary Ciliary Dyskinesia
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia

 

Last Updated: 14 Aug 2013

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Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
 

Status: Not yet recruiting

Condition Summary: Primary Ciliary Dyskinesia

 

Last Updated: 15 Aug 2009

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Early Detection and Characterization of Primary Ciliary Dyskinesia
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia

 

Last Updated: 7 May 2012

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