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Individual genetic variation can have a major impact on the clinical manifestation of a movement disorder and its response to treatment. Advances in gene discovery and increasing availability of diagnostic genetic testing have led to the identification of a growing number of patients with well-defined hereditary movement disorders. Establishing a genetic diagnosis may greatly impact patient counseling and shape therapeutic decisions. Further, assignment of a movement disorder to a specific genetic defect holds promise for the development of causal treatment approaches and individualized therapies, especially as the first gene-targeted approaches have recently entered clinical trials. However, important gaps remain, that is, genetic testing results are often inconclusive, gene-specific treatment options are still exceedingly rare, and designing clinical trials to demonstrate disease modification continues to pose a major challenge. © 2019 International Parkinson and Movement Disorder Society.
This article was published in the following journal.
Name: Movement disorders : official journal of the Movement Disorder Society
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A state of internal activity of an organism that is a necessary condition before a given stimulus will elicit a class of responses; e.g., a certain level of hunger (drive) must be present before food will elicit an eating response.
The detection of genetic variability (e.g., PHARMACOGENOMIC VARIANTS) relevant to PHARMACOGENETICS and PRECISION MEDICINE. The purpose of such genetic testing is to help determine the most effective treatment options and their optimum dosages with least potential risks for DRUG-RELATED SIDE EFFECTS AND ADVERSE REACTIONS.
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Groups of persons whose range of options is severely limited, who are frequently subjected to COERCION in their DECISION MAKING, or who may be compromised in their ability to give INFORMED CONSENT.
The genetic constitution of the individual; the characterization of the genes.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
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