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

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
 

Author(s): You Li, Hisato Yagi, Ezenwa Obi Onuoha, Rama Rao Damerla, Richard Francis, Yoshiyuki Furutani, Muhammad Tariq, Stephen M King, Gregory Hendricks, Cheng Cui, Manush Saydmohammed, Dong Min Lee, Maliha Zahid, Iman Sami, Linda Leatherbury, Gregory J Pazour, Stephanie M Ware, Toshio Nakanishi, Elizabeth Goldmuntz, Michael Tsang, Cecilia W Lo

Journal:

 

Heterotaxy, a birth defect involving left-right patterning defects, and primary ciliary dyskinesia (PCD), a sinopulmonary disease with dyskinetic/immotile cilia in the airway are seemingly disparate diseases. However, they have an overlapping genetic etiology involving mutations in ...

Last Updated: 27 Feb 2016

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ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.
 

Author(s): Małgorzata Kurkowiak, Ewa Ziętkiewicz, Agnieszka Greber, Katarzyna Voelkel, Alina Wojda, Andrzej Pogorzelski, Michał Witt

Journal:

 

Primary ciliary dyskinesia (PCD) is a rare recessive disease with a prevalence of 1/10,000; its symptoms are caused by a kinetic dysfunction of motile cilia in the respiratory epithelium, flagella in spermatozoids, and primary cilia in the embryonic node. PCD is genetically heterogeneous: ...

Last Updated: 30 Jan 2016

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Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis.
 

Author(s): Panayiotis Kouis, Stefania I Papatheodorou, Panayiotis K Yiallouros

Journal:

 

To date, diagnosis of Primary Ciliary Dyskinesia (PCD) remains difficult and challenging. We systematically evaluated the diagnostic performance of nasal Nitric Oxide (nNO) measurement for the detection of PCD, using either velum-closure (VC) or non-velum-closure (non-VC) techniques.

Last Updated: 4 Dec 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 22 free, full-text review articles on human participants. First 3 results:

[Primary ciliary dyskinesia].
 

Author(s): Suzanne Crowley

Journal:

 

Primary ciliary dyskinesia (PCD) is a rare disease, but causes symptoms that resemble far more common respiratory diseases. Late diagnosis is common, when damage to the respiratory system has already occurred. This article aims to elucidate the condition and the diagnostic methods ...

Last Updated: 27 Jan 2016

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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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Primary ciliary dyskinesia.
 

Author(s): Jason Lobo, Maimoona A Zariwala, Peadar G Noone

Journal: Semin Respir Crit Care Med. 2015 Apr;36(2):169-79.

 

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure, function, and biogenesis leading to chronic infections of the respiratory tract, fertility problems, and disorders of organ laterality. The diagnosis can be challenging, using traditional tools ...

Last Updated: 1 Apr 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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: 3 May 2016

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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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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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