{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T23:55:54Z","timestamp":1782258954668,"version":"3.54.5"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T00:00:00Z","timestamp":1734652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Myoclonus\u2010dystonia syndrome (MDS, OMIM #159900) is an autosomal\u2010dominant movement disorder caused by heterozygous variants in the epsilon sarcoglycan gene (<jats:italic>SGCE<\/jats:italic>) and characterized by a combination of myoclonic jerks, dystonia, and psychiatric comorbidities. Patients with MDS have a normal life expectancy with markedly reduced quality of life. Here, we report four family members diagnosed with MDS of variable severity due to a novel heterozygous splicing variant in <jats:italic>SGCE<\/jats:italic> (c.341\u20102A&gt;G), including a 13\u2010year\u2010old female who presented with disabling dystonic spasms, myoclonic jerks, and psychiatric symptoms. She had shown little or no response to several conventional MDS treatments. However, disabling axial dystonia was significantly improved by sodium oxybate (1\u2009g, twice daily). Although there was less effect on myoclonus, sodium oxybate treatment significantly improved the overall quality of life at the 3\u2010years follow\u2010up. Clinical trials are warranted to assess the clinical efficacy and safety of sodium oxybate for MDS\u2010associated dystonia.<\/jats:p>","DOI":"10.1002\/ajmg.a.63964","type":"journal-article","created":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T10:35:50Z","timestamp":1734690950000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Sodium Oxybate\u2010Treated Familial Myoclonus\u2010Dystonia Syndrome Due to Novel <scp><i>SGCE<\/i><\/scp> Variant"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8317-5951","authenticated-orcid":false,"given":"Malak Ali","family":"Alghamdi","sequence":"first","affiliation":[{"name":"Medical Genetic Division, Pediatric Department College of Medicine, King Saud University  Riyadh Saudi Arabia"},{"name":"Medical Genetic Division, Department of Pediatrics King Saud University Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muddathir H.","family":"Hamad","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Division, Department of Pediatrics King Saud University Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isra","family":"Alghamdi","sequence":"additional","affiliation":[{"name":"Neurology Department King Abdulaziz Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghiada","family":"Alghamdi","sequence":"additional","affiliation":[{"name":"Neurology Department Riyadh Military Hospital  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muneera","family":"Al\u2010Jelaify","sequence":"additional","affiliation":[{"name":"Pharmacy Department King Saud University Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sohaila","family":"Alshimemeri","sequence":"additional","affiliation":[{"name":"Neurology Division Department of Medicine College of Medicine, King Saud University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hebattalah","family":"Hamed","sequence":"additional","affiliation":[{"name":"College of Medicine Research Centre, College of Medicine, King Saud University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nouran","family":"Adly","sequence":"additional","affiliation":[{"name":"Medical Genetic Division, Pediatric Department College of Medicine, King Saud University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa A.","family":"Salih","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Division, Department of Pediatrics King Saud University Medical City  Riyadh Saudi Arabia"},{"name":"Pediatric Neurology Division, Pediatric Department College of Medicine, King Saud University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naif A.","family":"Almontashiri","sequence":"additional","affiliation":[{"name":"Center for Genetics and Inherited Diseases (CGID), Taibah University  Madinah Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fahad A.","family":"Bashiri","sequence":"additional","affiliation":[{"name":"Medical Genetic Division, Department of Pediatrics King Saud University Medical City  Riyadh Saudi Arabia"},{"name":"Pediatric Neurology Division, Pediatric Department College of Medicine, King Saud University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,20]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.14744\/nci.2014.28247"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNF.0b013e318203d415"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/0310057X0903700214"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/0972\u20102327.168625"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311\u2010020\u201000944\u20100"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.2174\/1570159X13666141210215423"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.7916\/D8J11FRZ"},{"key":"e_1_2_11_9_1","volume-title":"StatPearls","author":"Dominguez A.","year":"2024"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0959\u2010437x(02)00309\u2010x"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.06.016"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-374105-9.00054-X"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20605"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000188670.38576.bd"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471\u20104159.2010.07167.x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002631"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01901\u201006"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010015\u20107751\u20102"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27474"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.03.024"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sleep.2011.10.032"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.2174\/1389200219666180305153134"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010014\u20107488\u20103"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352\u20104642(18)30133\u20100"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/alcalc\/34.1.15"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.54.8.1706"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035\u2010016\u20109712\u2010x"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.7916\/d8\u2010rnsh\u2010c024"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.24142"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.027177"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.7916\/D8CJ8C5S"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10476"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2012.04.004"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63964","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T08:11:49Z","timestamp":1743840709000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63964"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,20]]},"references-count":32,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1002\/ajmg.a.63964"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63964","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,20]]},"assertion":[{"value":"2024-08-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63964"}}