Primary ciliary dyskinesia
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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]
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- More Detailed Information (Found: 4 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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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.
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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.
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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.
- Management Guidelines
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Support Groups (Found: 4 Resources)
Groups providing a wide range of services, supportive resources, and information
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- Live Chat
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 3 Resources)
Resources where you may find research studies and clinical trials
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The Genetic Disorders Of Mucociliary Clearance Consortium is a network of four U.S. centers (University of North Carolina at Chapel Hill, Washington University in St. Louis, University of Washington, and University of Colorado) that are collaborating in the diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing on primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism. Ultimately, this group hopes to better define the clinical pathogenesis of these important airway diseases, improve or expand diagnostic testing, and develop new and effective treatments. To read more about this consortium and their involvement with primary ciliary dyskinesia and Kartagener syndrome, click on the above link.
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ClinicalTrials.gov lists trials that are studying or have studied Primary ciliary dyskinesia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Patient Registry
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The Genetic Diseases of Mucociliary Clearance Consortium (GDMCC) has created a patient registry for individuals that have rare airway diseases. You can learn more about the patient registry by clicking on the GCMCC link.
Use the contact name and information below to learn more.
Susan Minnix, RN, BSN
Research Coordinator
4007 Thurston Bowles Bldg. CB#7248
Chapel Hill, NC 27599-7248
FAX: 919-843-5309
Email: sminnix@med.unc.edu
- Services (Found: 1 Resource)
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- Genetic Services
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We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
- NLM Gateway
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.