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.

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PCD Family Support Group UK

Provide support to patients and their carers who have, or are suspected of having, PCD. Bring PCD to the attention of medics who may come across PCD and continue to provide an up to date information service for them and the general public. To promote research to aid diagnosis and treatment of patients with PCD. Support the NHS and other bodies to ensure patients have access to diagnostic services and on-going care. Fundraise to support the above activities.

Last Updated: 4 Aug 2015

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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.

Logo
PCD Family Support Group UK

Provide support to patients and their carers who have, or are suspected of having, PCD. Bring PCD to the attention of medics who may come across PCD and continue to provide an up to date information service for them and the general public. To promote research to aid diagnosis and treatment of patients with PCD. Support the NHS and other bodies to ensure patients have access to diagnostic services and on-going care. Fundraise to support the above activities.

http://www.pcdsupport.org.uk

Last Updated: 4 Aug 2015

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

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
 

Author(s): Jillian P Casey, Patricia Goggin, Jennifer McDaid, Martin White, Sean Ennis, David R Betts, Jane S Lucas, Basil Elnazir, Sally Ann Lynch

Journal:

 

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by abnormal ciliary motion and impaired mucociliary clearance, leading to recurrent respiratory infections, sinusitis, otitis media and male infertility. Some patients also have laterality defects. ...

Last Updated: 30 Jun 2015

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RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
 

Author(s): Ludovic Jeanson, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Philippe Duquesnoy, Guy Montantin, Jacques Cadranel, Harriet Corvol, André Coste, Julie Désir, Anissa Souayah, Esther Kott, Nathalie Collot, Sylvie Tissier, Bruno Louis, Aline Tamalet, Jacques de Blic, Annick Clement, Estelle Escudier, Serge Amselem, Marie Legendre

Journal: Am. J. Hum. Genet.. 2015 Jul;97(1):153-62.

 

Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive condition resulting from structural and/or functional defects of the axoneme in motile cilia and sperm flagella. The great majority of mutations identified so far involve genes whose defects result in dynein-arm anomalies. ...

Last Updated: 4 Jul 2015

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Variation in DNAH1 may contribute to primary ciliary dyskinesia.
 

Author(s): Faiqa Imtiaz, Rabab Allam, Khushnooda Ramzan, Moeenaldeen Al-Sayed

Journal:

 

Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused by ultrastructural defects in ciliary or flagellar structure and is characterized by a number of clinical symptoms including recurrent respiratory infections progressing to permanent lung damage and infertility.

Last Updated: 1 May 2015

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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 19 free, full-text review articles on human participants. First 3 results:

Diagnosis of primary ciliary dyskinesia.
 

Author(s): Mary Anne Kowal Olm, Elia Garcia Caldini, Thais Mauad

Journal: J Bras Pneumol. ;41(3):251-63.

 

Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. ...

Last Updated: 16 Jul 2015

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Recent advances in primary ciliary dyskinesia genetics.
 

Author(s): Małgorzata Kurkowiak, Ewa Ziętkiewicz, Michał Witt

Journal: J. Med. Genet.. 2015 Jan;52(1):1-9.

 

Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder caused by the abnormal structure and/or function of motile cilia. The PCD diagnosis is challenging and requires a well-described clinical phenotype combined with the identification of abnormalities in ciliary ...

Last Updated: 16 Dec 2014

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Diagnosis and management of primary ciliary dyskinesia.
 

Author(s): Jane S Lucas, Andrea Burgess, Hannah M Mitchison, Eduardo Moya, Michael Williamson, Claire Hogg,

Journal: Arch. Dis. Child.. 2014 Sep;99(9):850-6.

 

Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility. Nasal symptoms and respiratory distress usually start soon after birth, and by adulthood bronchiectasis ...

Last Updated: 19 Aug 2014

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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

Genetics of Primary Ciliary Dyskinesia
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia; Kartagener Syndrome

 

Last Updated: 2 Nov 2015

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Otolith Function in Patients With Primary Ciliary Dyskinesia
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia

 

Last Updated: 14 Aug 2013

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International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD)
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia (PCD)

 

Last Updated: 13 Apr 2015

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