{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T13:59:13Z","timestamp":1787579953769,"version":"build-2736575974"},"reference-count":54,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,3,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Myotonic disorders, such as non-dystrophic myotonias (NDMs) and myotonic dystrophies (DMs) are characterized by a delay in muscle relaxation after a contraction stimulus. There is general consensus that protocols to treat myotonia need to be implemented.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>Mexiletine is the only pharmacological agent approved for the symptomatic treatment of myotonia in adult patients with NDM and is considered to be the first-line treatment for DMs; however, its production in Italy was halted in 2022 making its availability to patients problematic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A panel of 8 Italian neurologists took part in a two-round Delphi panel between June and October 2022, analyzing the current use of mexiletine in Italian clinical practice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The panelists assist 1126 patients (69% DM type1, 18% NDM and 13% DM type2). Adult NDM patients receive, on average, 400\u2013600\u200amg of mexiletine hydrochloride (HCl) while adult DM patients receive 100\u2013600\u200amg, per day in the long-term. The severity of symptoms is considered the main reason to start mexiletine treatment for both NDM and DM patients. Mexiletine is reckoned to have a clinical impact for both NDM and DM patients, but currently drug access is problematic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Mexiletine treatment is recognized to have a role in the reduction of the symptomatic burden for NDM and DM patients. Patient management could be improved by facilitating access to therapy and developing new drug formulations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230115","type":"journal-article","created":{"date-parts":[[2024,2,2]],"date-time":"2024-02-02T10:52:06Z","timestamp":1706871126000},"page":"411-423","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Expert Insights from a Delphi-driven Neurologists\u2019 Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy"],"prefix":"10.1177","volume":"11","author":[{"given":"Dario","family":"Lidonnici","sequence":"first","affiliation":[{"name":"Pharmalex Italy SpA, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Brambilla","sequence":"additional","affiliation":[{"name":"Pharmalex Italy SpA, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Ravasio","sequence":"additional","affiliation":[{"name":"Pharmalex Italy SpA, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alla","family":"Zozulya-Weidenfeller","sequence":"additional","affiliation":[{"name":"Lupin Atlantis Holdings SA, Zug, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Beiderbeck","sequence":"additional","affiliation":[{"name":"Lupin Atlantis Holdings SA, Zug, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariska","family":"van Aswegen","sequence":"additional","affiliation":[{"name":"Lupin Atlantis Holdings SA, Zug, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Lupin Atlantis Holdings SA, Zug, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria A.","family":"Sansone","sequence":"additional","affiliation":[{"name":"The NEMO Center, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,2,1]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20923"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.01404"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23683"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26887"},{"issue":"6","key":"ref005","first-page":"1889","volume":"22","author":"Sansone VA","year":"2016","journal-title":"Continuum (Minneap Minn)"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90154-5"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.1126\/science.1062125"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90039-U"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1007\/BF02043311"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-00678-0"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.3390\/ijms231810491"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000054481.84978.F9"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2012.03751.x"},{"key":"ref014","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.162396"},{"key":"ref015","doi-asserted-by":"publisher","DOI":"10.1007\/s40271-019-00357-y"},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2016.04.018"},{"key":"ref017","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000646"},{"key":"ref018","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000645"},{"key":"ref019","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.164046"},{"key":"ref020","unstructured":"Agencies EM Mexiletine- Summary of Product Characteristics 2018 [Available from: https:\/\/www.ema.europa.eu\/en\/documents\/product-information\/namusclaepar-product-information_en.pdf]."},{"key":"ref021","unstructured":"Deutsche Gesellschaft fur Neurologie.Myotone Dystrophien, nicht dystrophe Myotonien und periodische Paralysen 2017 [Available from: https:\/\/www.dgn.org\/leitlinien\/3457-030-055-myotone-dystrophien-nichtdystrophe-myotonien-und-periodische-paralysen-2017]."},{"issue":"3","key":"ref022","first-page":"98","volume":"27","author":"Lehmann-Horn F","year":"2008","journal-title":"Acta Myol"},{"key":"ref023","unstructured":"England N Standard contract for diagnostic service for rare neuromuscular disorders 2013 [Available from: https:\/\/www.england.nhs.uk\/wp-content\/uploads\/2013\/06\/d04-diagn-serv-rare-neuromusc.pdf]."},{"key":"ref024","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp294"},{"key":"ref025","doi-asserted-by":"publisher","DOI":"10.1016\/j.nurt.2007.01.012"},{"key":"ref026","unstructured":"Fondazione Malattie Miotoniche. 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