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Our knowledge of numerous dystonia-related genes, variants that they may contain, associated clinical presentations, and molecular disease mechanism may have significant translational potential for patients with genetically confirmed dystonia or their family members. Importantly, genetic testing permits the assembly of patient cohorts pertinent for dystonia-related research and developing therapeutics. Here we review the genetic testing approaches relevant to dystonia patients, and summarize and illustrate the multifold benefits of establishing an accurate molecular diagnosis for patients imminently or for translational research in the long run.<\/jats:p>","DOI":"10.1007\/s00702-021-02329-9","type":"journal-article","created":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T19:06:05Z","timestamp":1618859165000},"page":"473-481","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["The importance of genetic testing for dystonia patients and translational research"],"prefix":"10.1007","volume":"128","author":[{"given":"Jelena","family":"Pozojevic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Beetz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8062-6959","authenticated-orcid":false,"given":"Ana","family":"Westenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,19]]},"reference":[{"key":"2329_CR1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13905","author":"L Abbasi-Moheb","year":"2020","unstructured":"Abbasi-Moheb L, Westenberger A, Alotaibi M et al (2020) Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. 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