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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Primary ciliary dyskinesia


Other Names for this Disease
  • Ciliary dyskinesia primary
  • ICS
  • Immotile cilia syndrome
  • Polynesian bronchiectasis
  • Polynesian bronchiectasis
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Overview


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.[1][2] Because cilia are also present in the brain and reproductive organs, individuals with primary ciliary dyskinesia may also have chronic headaches, hydrocephalus and infertility.[1]  
Last updated: 5/10/2011

References

  1. Primary Ciliary Dyskinesia. American Lung Association. 2011; http://www.lungusa.org/lung-disease/primary-ciliary-dyskinesia/. Accessed 7/12/2011.
  2. Kartagener's Syndrome. Kartagener's Syndrome and Primary Ciliary Dyskinesia Foundation. http://www.kartagener-syndrom.org/cms/index.php/en/deseaseoverview/diseasedefinitions. Accessed 3/15/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Primary ciliary dyskinesia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Primary ciliary dyskinesia. Click on the link to view a sample search on this topic.