{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:52:50Z","timestamp":1791348770349,"version":"4.3.1"},"reference-count":45,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>The TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), which aims to facilitate collaborative research and clinical trials.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>This study aimed to assess DM2 patients included in the network, and to analyse their socio-demographic and clinical features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Data were collected through email surveys sent to 16 TREAT-NMD myotonic dystrophy core member registries. 10 registries enrolled DM2 patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The total number of DM2 cases was 1,720, with the Czech, German, and USA registries enrolling the most patients (445, 430, and 339 cases, respectively). The highest rates were seen in Czechia and Serbia (4.2 and 2.0 registered per 100,000 population, respectively). High DM2:DM1 ratios were seen in Central Europe. The median age at registry entry was 51 years. Symptom onset occurred before age 20 in 14% of cases. One fifth of patients used an assistive device to walk, and 4% were non-ambulatory. Insertion of a pacemaker or implantable cardioverter-defibrillator was reported in 4% of subjects, while 7% used non-invasive ventilation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>This represents the largest DM2 cohort assembled to date, providing demographic and clinical data for future research and trial recruitment, illustrating TREAT-NMD's international reach and the importance of capturing DM2 data.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602241290353","type":"journal-article","created":{"date-parts":[[2024,12,8]],"date-time":"2024-12-08T13:49:57Z","timestamp":1733665797000},"page":"1229-1237","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["International collaboration to improve knowledge on myotonic dystrophy type 2"],"prefix":"10.1177","volume":"11","author":[{"given":"Stojan","family":"Peric","sequence":"first","affiliation":[{"name":"University Clinical Center of Serbia - Neurology Clinic, University of Belgrade - Faculty of Medicine, Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vukan","family":"Ivanovic","sequence":"additional","affiliation":[{"name":"University Clinical Center of Serbia - Neurology Clinic, University of Belgrade - Faculty of Medicine, Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma-Jayne","family":"Ashley","sequence":"additional","affiliation":[{"name":"Cure Myotonic Dystrophy UK Charity, Whitton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belen","family":"Esparis","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig","family":"Campbell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Epidemiology and Clinical Neurological Sciences, Schulich School of Medicine, Western University, London, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Wenninger","sequence":"additional","affiliation":[{"name":"Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darren","family":"Monckton","sequence":"additional","affiliation":[{"name":"School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Marini-Bettolo","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Walker","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav","family":"Voh\u00e1\u0148ka","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Brno, Brno, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kleed","family":"Cumming","sequence":"additional","affiliation":[{"name":"Myotonic Dystrophy Family Registry, Myotonic Dystrophy Foundation, Oakland, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"\u0141usakowska","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Hodgkinson","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan","family":"Cosyns","sequence":"additional","affiliation":[{"name":"Belgian Neuromuscular Diseases Registry, Sciensano, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Centre for Brain Research Neurogenetics Clinic, University of Auckland, Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eppie","family":"Yiu","sequence":"additional","affiliation":[{"name":"Australian Neuromuscular Disease Registry, Murdoch Children's Research Institute, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radim","family":"Mazanec","sequence":"additional","affiliation":[{"name":"Department of Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Myotonic Dystrophy Family Registry, Myotonic Dystrophy Foundation, Oakland, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kostera-Pruszczyk","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence","family":"Korngut","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Jagut","sequence":"additional","affiliation":[{"name":"Belgian Neuromuscular Diseases Registry, Sciensano, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[{"name":"Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Forbes","sequence":"additional","affiliation":[{"name":"Australian Neuromuscular Disease Registry, Murdoch Children's Research Institute, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Poll","sequence":"additional","affiliation":[{"name":"TREAT-NMD Services Limited, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Roxburgh","sequence":"additional","affiliation":[{"name":"Centre for Brain Research Neurogenetics Clinic, University of Auckland, Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,12,8]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.8.1448"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350305"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(95)00040-2"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1062125"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0010-z"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.01.006"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.00303"},{"key":"e_1_3_3_9_2","first-page":"222","article-title":"Myotonic dystrophy type 2: the 2020 update","volume":"39","author":"Meola G","year":"2020","unstructured":"Meola G. Myotonic dystrophy type 2: the 2020 update. Acta Myol 2020; 39: 222\u2013234.","journal-title":"Acta Myol"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1159\/000444018"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.00463"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.23"},{"key":"e_1_3_3_13_2","doi-asserted-by":"crossref","unstructured":"Harper PS. Myotonic dystrophy 2009:106.","DOI":"10.1093\/oso\/9780199571970.001.0001"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/imj.13528"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2010.08.006"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40290-020-00332-1"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-67144-4_20"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.08.009"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0889-0"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-171"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8653-2"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1086\/378720"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1086\/378566"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147335.10783.E4"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-6993-0"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000054481.84978.F9"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180328"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000198227.91131.1e"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00118-7"},{"key":"e_1_3_3_30_2","unstructured":"Schoser B. Myotonic Dystrophy Type 2 2020:1\u201322."},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.24037"},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20289"},{"key":"e_1_3_3_33_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13401"},{"key":"e_1_3_3_34_2","doi-asserted-by":"publisher","DOI":"10.1097\/PHM.0000000000000836"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20923"},{"key":"e_1_3_3_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.03.013"},{"key":"e_1_3_3_37_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-022-06507-9"},{"key":"e_1_3_3_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.04.012"},{"key":"e_1_3_3_39_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8159.2012.03351.x"},{"key":"e_1_3_3_40_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-7133.2011.00265.x"},{"key":"e_1_3_3_41_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.01.011"},{"key":"e_1_3_3_42_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.resp.2014.01.006"},{"key":"e_1_3_3_43_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180329"},{"key":"e_1_3_3_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.05.010"},{"key":"e_1_3_3_45_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.12.002"},{"key":"e_1_3_3_46_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004420"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602241290353","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602241290353","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602241290353","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:52:50Z","timestamp":1777506770000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602241290353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":45,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1177\/22143602241290353"],"URL":"https:\/\/doi.org\/10.1177\/22143602241290353","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11]]}}}