{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T00:20:11Z","timestamp":1787530811657,"version":"build-2736575974"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T00:00:00Z","timestamp":1781568000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T00:00:00Z","timestamp":1787529600000},"content-version":"vor","delay-in-days":69,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Lupin Neurosciences"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Prominent symptoms in myotonic dystrophy (DM) negatively affect the hands\/arms (DM1), legs (DM2), or relate to fatigue. Myotonia is experienced by 90% of people with DM1 and is generally the DM hallmark. However, it is unclear how people with DM consistently differentiate the impact of myotonia from other symptoms \u2013 especially weakness \u2013 across the broad framework of DM.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>ENSA (revEal the burdeN on daily life for myotonic dyStrophy patients due to myotoniA) was a global (targeted at eight major countries), anonymised, online, patient-reported survey to investigate perceptions of daily impact\/burden of myotonia and explore antimyotonic treatment access. Thirty-two questions covering DM symptoms, broad disease impact, specific impact of myotonia and treatment formed an online survey. Internal consistency of multi-item myotonia-related domains was assessed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic>N=<\/jats:italic>\n                      386 (18\u201382 years; 62% women; 74% self-reporting a genetically confirmed DM1 diagnosis) completed ENSA. Common symptoms were hand\/arm myotonia and upper-body muscle weakness (DM1, mean scores, 3.5; possible range, 1\u20135) and lower-body muscle weakness (DM2, mean score, 4.2; possible range, 1\u20135). Leg-myotonia scores increased in higher-age brackets: DM1\/DM2, mean 2.86\/3.71 in &lt;40 years; &gt;3.26\/&gt;3.97 in \u226540 years. Some respondents associated \u201cmyotonia\u201d with DM symptoms not clinically linked to myotonia. Nevertheless, heightened \u201cmyotonia\u201d scoring was associated with heightened daily impact\/burden, and worsened abilities to undertake normal activities. Cronbach\u2019s \u03b1 was 0.96 (95% CI: 0.95\u20130.97) and 0.93 (95% CI: 0.91\u20130.95) for DM1 and DM2, respectively, indicating good internal consistency for questions assessing impact of myotonia on daily activities. 193\/247(78%) DM1 and 57\/83(69%) DM2 respondents were not on an antimyotonic. Treatment levels were highest in Italy (37%), where greatest treatment-related improvements and lowest dissatisfaction scores were reported (mean 24.6%; mean 40.0% for the other target countries).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>ENSA data indicate that neuromotor function is impaired and that myotonia is frequently burdensome in DM. Some patients have unmet treatment needs, although antimyotonic treatment may reduce the impact of myotonia and, consequently, improve aspects of daily living. Patients may need guidance to differentiate \u201cmyotonia\u201d from other muscle symptoms. Nevertheless, ENSA enhances understanding of patient-reported symptom burden in DM and indicates support for antimyotonic treatment.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12883-026-05002-4","type":"journal-article","created":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T23:33:26Z","timestamp":1781566406000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey"],"prefix":"10.1186","volume":"26","author":[{"given":"Valeria A.","family":"Sansone","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Utkarsh J.","family":"Dang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Edmondson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"D\u00edaz-Manera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikoletta","family":"Nikolenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma-Jayne","family":"Ashley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Bassez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Gagnon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Montagnese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Homira","family":"Osman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Tard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Nowak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alla","family":"Zozulya-Weidenfeller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,16]]},"reference":[{"issue":"4","key":"5002_CR1","doi-asserted-by":"publisher","first-page":"998","DOI":"10.1007\/s00415-019-09228-w","volume":"66","author":"E Landfeldt","year":"2019","unstructured":"Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Gorman G, et al. 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Muscle Nerve. 2018.","DOI":"10.1002\/mus.26066"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-026-05002-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-026-05002-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-026-05002-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T23:58:07Z","timestamp":1787529487000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s12883-026-05002-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,16]]},"references-count":41,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["5002"],"URL":"https:\/\/doi.org\/10.1186\/s12883-026-05002-4","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,16]]},"assertion":[{"value":"19 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"We confirm that we have read the Journal\u2019s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines. The survey was approved in France by \u201cComit\u00e9 de protection des personnes Ouest III\u201d (Committee for the Protection of Persons West III), ref: 22.04411.000149 and in the USA by Sterling IRB, ref: APP845, in accordance with ethical standards laid down in the 1964 Declaration of Helsinki and its amendments. All participants provided informed consent before completing the survey. Data are fully anonymous and participants cannot be identified.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Valeria Sansone reports serving on scientific advisory boards and being a consultant for Lupin. Utkarsh Dang received consultancy fees from Lupin. Linda Edmondson received consultancy fees from Lupin. Jordi D\u00edaz-Manera reports serving on scientific advisory boards and being a consultant for Lupin. Nikoletta Nikolenko received consultancy fees from Lupin. Emma-Jayne Ashley received consultancy fees from Lupin. Guillaume Bassez received consultancy fees from Lupin. Cynthia Gagnon reports serving on scientific advisory boards and being a consultant for Lupin. Federica Montagnese reports serving on scientific advisory boards and being a consultant for Lupin. Homira Osman received consultancy fees from Lupin. Celine Tard received consultancy fees from Lupin. Ulrike Nowak is an employee of admedicum. Christopher Turner received consultancy fees from Lupin. Alla Zozulya-Weidenfeller is an employee of Lupin.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"538"}}