{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T16:29:16Z","timestamp":1785601756124,"version":"3.56.0"},"reference-count":33,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T00:00:00Z","timestamp":1709596800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder that affects multiple organs. In this study, we investigated symptoms of pain and presence of small and large fiber neuropathy in the juvenile and adult form of DM1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Twenty genetically verified DM1 patients were included. Pain was assessed, and neurological examination and investigations of the peripheral nervous system by quantification of small nerve fibers in skin biopsy, quantitative sensory testing and nerve conduction studies were performed. Results from skin biopsies were compared to healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>Seventeen patients reported chronic pain. Large and\/or small fiber abnormalities were present in 50% of the patients. The intraepidermal nerve fiber density was significantly lower in the whole group of patients compared to healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Small-fiber neuropathy might be an important cause of pain in DM1.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2024.1375218","type":"journal-article","created":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T11:58:21Z","timestamp":1709639901000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Small and large fiber neuropathy in adults with myotonic dystrophy type 1"],"prefix":"10.3389","volume":"15","author":[{"given":"Gro","family":"Solbakken","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sissel","family":"L\u00f8seth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan C.","family":"Frich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Espen","family":"Dietrichs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"\u00d8rstavik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,3,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3\u2032 end of a transcript encoding a protein kinase family member","volume":"68","author":"Brook","year":"1992","journal-title":"Cell"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1111\/j.1529-8027.2011.00313.x","article-title":"Peripheral neuropathy in myotonic dystrophy type 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Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society","volume":"17","author":"Lauria","year":"2010","journal-title":"Eur J Neurol"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1097\/NEN.0b013e3182260939","article-title":"Peripheral neuropathy is linked to a severe form of myotonic dystrophy in transgenic mice","volume":"70","author":"Panaite","year":"2011","journal-title":"J Neuropathol Exp Neurol"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"3728","DOI":"10.1093\/brain\/awz333","article-title":"Diagnostic criteria for small fiber neuropathy in clinical practice and research","volume":"142","author":"Devigili","year":"2019","journal-title":"Brain"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1038\/nrneurol.2013.180","article-title":"Reappraising neuropathic pain in humans\u2014how symptoms help disclose mechanisms","volume":"9","author":"Truini","year":"2013","journal-title":"Nat Rev Neurol"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.neurol.2018.09.016","article-title":"Neuropathic pain: definition, assessment and epidemiology","volume":"175","author":"Bouhassira","year":"2019","journal-title":"Rev Neurol"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"1912","DOI":"10.1093\/brain\/awn093","article-title":"The diagnostic criteria for small fiber neuropathy: from symptoms to neuropathology","volume":"131","author":"Devigili","year":"2008","journal-title":"Brain"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"2285","DOI":"10.2337\/dc10-1303","article-title":"Diabetic neuropathies: update on definitions, diagnostic criteria, estimation of severity, and treatments","volume":"33","author":"Tesfaye","year":"2010","journal-title":"Diabetes Care"},{"key":"ref29","doi-asserted-by":"publisher","first-page":"601","DOI":"10.3389\/fneur.2018.00601","article-title":"Myotonic dystrophy\u2014a Progeroid disease?","volume":"9","author":"Meinke","year":"2018","journal-title":"Front Neurol"},{"key":"ref30","first-page":"126","article-title":"Multidimensional aspects of pain in myotonic dystrophies","volume":"34","author":"Peric","year":"2015","journal-title":"Acta Myol"},{"key":"ref31","doi-asserted-by":"publisher","first-page":"e643","DOI":"10.1097\/PR9.0000000000000643","article-title":"The International Association for the Study of Pain definition of pain: as valid in 2018 as in 1979, but in need of regularly updated footnotes","volume":"3","author":"Treede","year":"2018","journal-title":"Pain Rep"},{"key":"ref32","doi-asserted-by":"publisher","first-page":"101433","DOI":"10.1016\/j.berh.2019.101433","article-title":"Myalgia in myositis and myopathies","volume":"33","author":"Glaubitz","year":"2019","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"ref33","unstructured":"Neuropathic pain in adult myotonic dystrophy type 1. Presence of small and large fiber neuropathy?\n            SolbakkenG\n            L\u00f8sethS\n            N\u00e6rlandT\n            FrichJ\n            DietrichsE\n            \u00d8rstavikK\n          2020"}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2024.1375218\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T11:58:24Z","timestamp":1709639904000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2024.1375218\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,5]]},"references-count":33,"alternative-id":["10.3389\/fneur.2024.1375218"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2024.1375218","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,5]]},"article-number":"1375218"}}