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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]
References
- Primary Ciliary Dyskinesia. American Lung Association. http://www.lungusa.org/lung-disease/primary-ciliary-dyskinesia/. Accessed July 12, 2011.
- Kartagener's Syndrome. Kartagener's Syndrome and Primary Ciliary Dyskinesia Foundation. http://www.kartagener-syndrom.org/cms/index.php/en/deseaseoverview/diseasedefinitions. Accessed March 15, 2011.
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by the Genetic and Rare Diseases Information Center3 question(s) from the public on Primary ciliary dyskinesia have been answered. See questions and answers. You can also submit a new question.
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General Information
- Genetics Home Reference (GHR) contains information on Primary ciliary dyskinesia. Click on the link to go to GHR and review the 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 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Primary ciliary dyskinesia. Click on the link to go to OMIM and review these resources.
