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?

Privately answer questions about your health. Let resources, you select, come to you.

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.

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

Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD).
 

Author(s): Laura Behan, Margaret W Leigh, Sharon D Dell, Audrey Dunn Galvin, Alexandra L Quittner, Jane S Lucas

Journal: Thorax. 2017 Sep;72(9):832-839.

 

Quality of life (QOL)-primary ciliary dyskinesia (PCD) is the first disease-specific, health-related QOL instrument for PCD. Psychometric validation of QOL-PCD assesses the performance of this measure in adults, including its reliability, validity and responsiveness to change.

Last Updated: 31 Dec 1969

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Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
 

Author(s): Tamara Paff, Niki T Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G Haarman, Johannes M A Daniels, Erik A Sistermans, Natalija Bogunovic, Gerard W Dougherty, Inga M Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha

Journal: Am. J. Hum. Genet.. 2017 Jan;100(1):160-168.

 

Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 ...

Last Updated: 31 Dec 1969

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Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.
 

Author(s): Gen Kano, Hisashi Tsujii, Kazuhiko Takeuchi, Kaname Nakatani, Makoto Ikejiri, Satoru Ogawa, Hisami Kubo, Mizuho Nagao, Takao Fujisawa

Journal: Mol Med Rep. 2016 Dec;14(6):5077-5083.

 

Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural and/or functional impairment of cilia throughout the whole body. Early diagnosis of PCD is important for the prevention of long‑term sequelae, however early diagnosis is a challenge due to the phenotypic ...

Last Updated: 31 Dec 1969

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

Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries.
 

Author(s): Nisreen Rumman, Claire Jackson, Samuel Collins, Patricia Goggin, Janice Coles, Jane S Lucas

Journal:

 

Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, ...

Last Updated: 31 Dec 1969

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Primary Ciliary Dyskinesia.
 

Author(s): Michael R Knowles, Maimoona Zariwala, Margaret Leigh

Journal: Clin. Chest Med.. 2016 09;37(3):449-61.

 

Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in ∼50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measurement ...

Last Updated: 31 Dec 1969

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Primary ciliary dyskinesia and associated sensory ciliopathies.
 

Author(s): Amjad Horani, Thomas W Ferkol

Journal: Expert Rev Respir Med. 2016 ;10(5):569-76.

 

Primary ciliary dyskinesia (PCD) is a genetic disease of motile cilia, which belongs to a group of disorders resulting from dysfunction of cilia, collectively known as ciliopathies. Insights into the genetics and phenotypes of PCD have grown over the last decade, in part propagated ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Genetics of Primary Ciliary Dyskinesia
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia; Kartagener Syndrome

 

Last Updated: 17 Apr 2017

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Registry for Primary Ciliary Dyskinesia
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia

 

Last Updated: 31 Aug 2017

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