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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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 112 free, full-text research articles on human participants. First 3 results:

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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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
 

Author(s): Christina Austin-Tse, Jan Halbritter, Maimoona A Zariwala, Renée M Gilberti, Heon Yung Gee, Nathan Hellman, Narendra Pathak, Yan Liu, Jennifer R Panizzi, Ramila S Patel-King, Douglas Tritschler, Raqual Bower, Eileen O'Toole, Jonathan D Porath, Toby W Hurd, Moumita Chaki, Katrina A Diaz, Stefan Kohl, Svjetlana Lovric, Daw-Yang Hwang, Daniela A Braun, Markus Schueler, Rannar Airik, Edgar A Otto, Margaret W Leigh, Peadar G Noone, Johnny L Carson, Stephanie D Davis, Jessica E Pittman, Thomas W Ferkol, Jeffry J Atkinson, Kenneth N Olivier, Scott D Sagel, Sharon D Dell, Margaret Rosenfeld, Carlos E Milla, Niki T Loges, Heymut Omran, Mary E Porter, Stephen M King, Michael R Knowles, Iain A Drummond, Friedhelm Hildebrandt

Journal: Am. J. Hum. Genet.. 2013 Oct;93(4):672-86.

 

Primary ciliary dyskinesia (PCD) is caused when defects of motile cilia lead to chronic airway infections, male infertility, and situs abnormalities. Multiple causative PCD mutations account for only 65% of cases, suggesting that many genes essential for cilia function remain to ...

Last Updated: 7 Oct 2013

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Complexity, temporal stability, and clinical correlates of airway bacterial community composition in primary ciliary dyskinesia.
 

Author(s): Geraint B Rogers, Mary P Carroll, Nur Masirah M Zain, Kenneth D Bruce, Karen Lock, Woolf Walker, Graeme Jones, Thomas W V Daniels, Jane S Lucas

Journal: J. Clin. Microbiol.. 2013 Dec;51(12):4029-35.

 

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary function, leading to compromised airway clearance and chronic bacterial infection of the upper and lower airways. The compositions of these infections and the relationships between their ...

Last Updated: 18 Nov 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 11 free, full-text review articles on human participants. First 3 results:

Two cases of primary ciliary dyskinesia with different responses to macrolide treatment.
 

Author(s): Takashi Kido, Kazuhiro Yatera, Kei Yamasaki, Shuya Nagata, Yasuo Choujin, Chiyo Yamaga, Kanako Hara, Hiroshi Ishimoto, Masanori Hisaoka, Hiroshi Mukae

Journal: Intern. Med.. 2012 ;51(9):1093-8.

 

We herein report two cases of primary ciliary dyskinesia (PCD) with different responses to macrolides. Case 1: a 17-year-old Japanese man with Pseudomonas aeruginosa infection and combined defect of both inner and outer dynein arms in the cilia was unsuccessfully treated with long-term ...

Last Updated: 11 May 2012

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Nitric oxide in primary ciliary dyskinesia.
 

Author(s): Woolf T Walker, Claire L Jackson, Peter M Lackie, Claire Hogg, Jane S Lucas

Journal: Eur. Respir. J.. 2012 Oct;40(4):1024-32.

 

Nitric oxide is continually synthesised in the respiratory epithelium and is upregulated in response to infection or inflammation. Primary ciliary dyskinesia (PCD) is characterised by recurrent sinopulmonary infections due to impaired mucociliary clearance. Despite chronic infections, ...

Last Updated: 1 Oct 2012

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Update of respiratory tract disease in children with primary ciliary dyskinesia.
 

Author(s): Scott D Sagel, Stephanie D Davis, Paolo Campisi, Sharon D Dell

Journal: Proc Am Thorac Soc. 2011 Sep;8(5):438-43.

 

Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by abnormal ciliary structure and function leading to impaired mucociliary clearance and chronic progressive sinopulmonary disease. Upper and lower respiratory tract manifestations are cardinal features of PCD. ...

Last Updated: 19 Sep 2011

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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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Early Detection and Characterization of Primary Ciliary Dyskinesia
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia

 

Last Updated: 7 May 2012

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Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia
 

Status: Not yet recruiting

Condition Summary: Primary Ciliary Dyskinesia

 

Last Updated: 27 Aug 2013

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