{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T14:50:20Z","timestamp":1793199020448,"version":"4.5.0"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,2,15]],"date-time":"2021-02-15T00:00:00Z","timestamp":1613347200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,2,15]],"date-time":"2021-02-15T00:00:00Z","timestamp":1613347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ital J Pediatr"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Myoclonus dystonia (MDS) is a dominantly inherited genetic disorder caused by loss-of-function mutations in the epsilon sarcoglycan gene (SGCE).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We here in report a twenty months old Saudi boy who presented to us with a concern that the child is unable to walk properly. On assessment, he was flexing his left arm and left leg that usually followed by a back-ward fall. Diagnosis of dystonia induced with initiation of movement was suggested that later on proven genetically to be pathogenic mutation of sarcoglycan gene. Carbamazepine therapy was initiated with dramatic response. Response was maintained at 4\u2009years follow up.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our patient and the other previously reported cases might highlight the response of SGCE mutations to carbamazepine therapy.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13052-021-00986-w","type":"journal-article","created":{"date-parts":[[2021,2,17]],"date-time":"2021-02-17T17:53:41Z","timestamp":1613584421000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child"],"prefix":"10.1186","volume":"47","author":[{"given":"Mohammed F.","family":"Aljabri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8535-3838","authenticated-orcid":false,"given":"Naglaa M.","family":"Kamal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrhman","family":"Alghamdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamdan","family":"Alghamdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naif","family":"Alomairi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,15]]},"reference":[{"issue":"11","key":"986_CR1","doi-asserted-by":"publisher","first-page":"1418","DOI":"10.1177\/0883073813488677","volume":"28","author":"D Ghosh","year":"2013","unstructured":"Ghosh D, Indulkar S. Primary myoclonus-dystonia: a diagnosis often missed in children. J Child Neurol. 2013;28(11):1418\u201322.","journal-title":"J Child Neurol"},{"key":"986_CR2","unstructured":"Genetic and rare diseases information center. Myoclonus-Dystonia. https:\/\/rarediseases.info.nih.gov\/diseases\/7139\/myoclonus-dystonia. Last Accessed on 17th March 2020."},{"issue":"5","key":"986_CR3","doi-asserted-by":"publisher","first-page":"612","DOI":"10.1001\/jamaneurol.2014.99","volume":"71","author":"T Popa","year":"2014","unstructured":"Popa T, Milani P, Richard A, Hubsch C, Brochard V, Tranchant C, Sadnicka A, Rothwell J, Vidailhet M, Meunier S, Roze E. The neurophysiological features of myoclonus dystonia and differentiation from other dystonias. JAMA Neurol. 2014;71(5):612\u20139.","journal-title":"JAMA Neurol"},{"key":"986_CR4","unstructured":"Genetics home reference. Myoclonus-Dystonia. https:\/\/ghr.nlm.nih.gov\/condition\/myoclonus-dystonia#inheritance. Last Accessed on 17th March 2020."},{"key":"986_CR5","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/B978-0-12-411573-6.00012-7","volume-title":"Movement Disorders in Childhood (Second Edition)","author":"HS Singer","year":"2016","unstructured":"Singer HS, Mink JW, Gilbert DL, Jankovic J. Myoclonus (chapter 12). In: Movement Disorders in Childhood (Second Edition); 2016. p. 205\u201339."},{"issue":"14","key":"986_CR6","doi-asserted-by":"publisher","first-page":"1597","DOI":"10.1001\/jama.2009.1473","volume":"302","author":"A Shafer","year":"2009","unstructured":"Shafer A, Lighthall GK. Perioperative medicine: managing for outcome. JAMA. 2009;302(14):1597\u20138.","journal-title":"JAMA"},{"issue":"5","key":"986_CR7","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1136\/jmg.2005.036780","volume":"43","author":"S Tezenas du Montcel","year":"2006","unstructured":"Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Mar\u00e9chal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A, French Dystonia Network. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet. 2006;43(5):394\u2013400.","journal-title":"J Med Genet"},{"issue":"4","key":"986_CR8","doi-asserted-by":"publisher","first-page":"231","DOI":"10.3988\/jcn.2011.7.4.231","volume":"7","author":"JH Lee","year":"2011","unstructured":"Lee JH, Lyoo CH, Lee MS. A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously. J Clin Neurol. 2011;7(4):231\u20132.","journal-title":"J Clin Neurol"},{"key":"986_CR9","unstructured":"Artane. https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/nda\/2003\/006773_S036_ARTANE.pdf. Last Accessed 18.5.2020."},{"issue":"6","key":"986_CR10","doi-asserted-by":"publisher","first-page":"724","DOI":"10.1002\/mds.20030","volume":"19","author":"L Cif","year":"2004","unstructured":"Cif L, Valente EM, Hemm S, Coubes C, Vayssiere N, Serrat S, Di Giorgio A, Coubes P. Deep brain stimulation in myoclonus-dystonia syndrome. Mov Disord. 2004;19(6):724\u20137.","journal-title":"Mov Disord"},{"key":"986_CR11","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.parkreldis.2018.05.005","volume":"53","author":"H Sanjari Moghaddam","year":"2018","unstructured":"Sanjari Moghaddam H, Tafakhori A, Darvish H, Mahmoudi-Gharaei J, Jamali F, Aghamollaii V. Treatment of Myoclonus-dystonia with carbamazepine. Parkinsonism Relat Disord. 2018;53:116\u20137 8.","journal-title":"Parkinsonism Relat Disord"},{"key":"986_CR12","unstructured":"Carbamazepine. https:\/\/en.wikipedia.org\/wiki\/Carbamazepin. Last Accessed on 16th April 2020."},{"issue":"1","key":"986_CR13","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1177\/1756285610395653","volume":"4","author":"M Kojovic","year":"2011","unstructured":"Kojovic M, Cordivari C, Bhatia K. Myoclonic disorders: a practical approach for diagnosis and treatment. Ther Adv Neurol Disord. 2011;4(1):47\u201362.","journal-title":"Ther Adv Neurol Disord"},{"key":"986_CR14","unstructured":"Dystonia. https:\/\/www.aans.org\/en\/Patients\/Neurosurgical-Conditions-and-Treatments\/Dystonia. Last accessed 18.5.2020."}],"container-title":["Italian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13052-021-00986-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13052-021-00986-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13052-021-00986-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,17]],"date-time":"2021-02-17T17:55:05Z","timestamp":1613584505000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijponline.biomedcentral.com\/articles\/10.1186\/s13052-021-00986-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,15]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["986"],"URL":"https:\/\/doi.org\/10.1186\/s13052-021-00986-w","relation":{},"ISSN":["1824-7288"],"issn-type":[{"value":"1824-7288","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,15]]},"assertion":[{"value":"30 July 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 February 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 February 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The study was approved by the research and ethical committee of the participating hospitals. All parents of enrolled children signed written informed consents for participation of their children in the current study.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All parents of enrolled children signed written informed consents for publication the current study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors declare no competing interests related to the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"33"}}