{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T15:51:54Z","timestamp":1791820314829,"version":"4.3.4"},"reference-count":99,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T00:00:00Z","timestamp":1711065600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes causing variations of single or mixed dystonia has improved our understanding of the disease\u2019s etiology. Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. Diagnosis of dystonia is primarily based on clinical symptoms, which can be challenging due to overlapping symptoms with other neurological conditions, such as Parkinson\u2019s disease. This review aims to summarize recent advances in the genetic origins and management of focal dystonia.<\/jats:p>","DOI":"10.3390\/ijms25073571","type":"journal-article","created":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T05:10:53Z","timestamp":1711084253000},"page":"3571","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Genetic Update and Treatment for Dystonia"],"prefix":"10.3390","volume":"25","author":[{"given":"Jan","family":"Koptielow","sequence":"first","affiliation":[{"name":"Department of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Szy\u0142ak","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Szewczyk-Roszczenko","sequence":"additional","affiliation":[{"name":"Department of Synthesis and Technology of Drugs, Medical University of Bialystok, Kilinskiego 1, 15-089 Bialystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9180-5901","authenticated-orcid":false,"given":"Piotr","family":"Roszczenko","sequence":"additional","affiliation":[{"name":"Department of Synthesis and Technology of Drugs, Medical University of Bialystok, Kilinskiego 1, 15-089 Bialystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Kochanowicz","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"Ku\u0142akowska","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Chor\u0105\u017cy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1212\/CON.0000000000000747","article-title":"The Dystonias","volume":"25","author":"Jinnah","year":"2019","journal-title":"Contin. 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