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The pathogenesis of M\u2010D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M\u2010D due to SCGE deletions who displayed a robust and sustained response to levodopa (<jats:sc>L<\/jats:sc>\u2010dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of <jats:sc>L<\/jats:sc>\u2010dopa may be considered in patients with myoclonus\u2010dystonia. \u00a9 2008 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22375","type":"journal-article","created":{"date-parts":[[2009,1,9]],"date-time":"2009-01-09T16:40:05Z","timestamp":1231519205000},"page":"425-428","source":"Crossref","is-referenced-by-count":45,"title":["Responsiveness to levodopa in epsilon\u2010sarcoglycan deletions"],"prefix":"10.1002","volume":"24","author":[{"given":"Marta San","family":"Luciano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie","family":"Ozelius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Sims","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Saunders\u2010Pullman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,2,23]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.2.242"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000253188.76092.06"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10325"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.1119"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20605"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000188670.38576.bd"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00298440"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2004.07.010"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/100.3.455"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20030"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2004.039248"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1177\/003591577306600920"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/jb\/mvj138"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20661"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21785"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000061480.86610.BF"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl472"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10635"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.8.1241"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2004.tb00462.x"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20162"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm209"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21895"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22375","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.22375","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:18:20Z","timestamp":1760966300000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.22375"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,15]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,2,15]]}},"alternative-id":["10.1002\/mds.22375"],"URL":"https:\/\/doi.org\/10.1002\/mds.22375","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,15]]}}}