Paroxysmal nonkinesigenic dyskinesia
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Paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include 1 to 4 hour long episodes of irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no known trigger or be brought on by alcohol, caffeine, stress, fatigue, menses, or excitement. The familial form is caused by mutations in the PNKD gene and is inherited in an autosomal dominant pattern.[1]
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- More Detailed Information (Found: 6 Resources)
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- General
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Genetics Home Reference (GHR) contains a condition summary on Paroxysmal nonkinesigenic dyskinesia. Click on the link to go to GHR and review this summary.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Paroxysmal nonkinesigenic dyskinesia. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to 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.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Paroxysmal nonkinesigenic dyskinesia. Click on the link to view a sample search on this topic.
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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.
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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.
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ClinicalTrials.gov lists trials that are studying or have studied Paroxysmal nonkinesigenic dyskinesia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
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