Neuropathic pain in adult Myotonic Dystrophy type 1.  Presence of small and large fibre neuropathy?

Neuropathic pain in adult Myotonic Dystrophy type 1. Presence of small and large fibre neuropathy? | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research article Neuropathic pain in adult Myotonic Dystrophy type 1. Presence of small and large fibre neuropathy? Gro Solbakken, Sissel Løseth, Terje Nærland, Jan Frich, Espen Dietrichs, and 1 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-29770/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Background: Myotonic Dystrophy type 1 (DM1) is an inherited neuromuscular disorder affecting multiple organs. There is an increasing awareness of chronic pain in DM1. In this cross-sectional study, we investigated symptoms of neuropathic pain and small and large fiber neuropathy in the adult form of DM1. We also studied if neuropathy was related to the number of CTG repeats, disease duration and other clinical DM1 symptoms, and investigated if skin biopsy tests for small fiber neuropathy differed in the DM1 group compared to reference values from healthy controls. Methods: 20 genetically verified DM1 adult patients were included in the study. Pain descriptions, neurologic examination and objective investigations of the peripheral nerve system by quantitative sensory testing, skin biopsies and neurography were conducted. Statistical analyses of group differences and frequencies were performed. Results: Six patients (30%) out of 20 patients with DM1 described neuropathic pain, and three of these had objective findings on both small and large fiber neuropathy, as well as clinically sensory findings. Together, large and/or small fibre neuropathy is present in 50% of the patients with DM1. The intra epidermal nerve fiber density was significantly lower (p= <0.001, Cohen`s d = 1.2) in the 20 patients with DM1 (mean 8.16, SD: 2.28) compared to a reference group (N = 106, mean 12.43, SD: 4.59). Patients with large fiber neuropathy had significantly lower muscle strength (p = 0.01, Cohen`s d = 1.6, mean difference 0.4, CI: 0.7 - 0.1) than patients without large fiber neuropathy. Conclusion: Symptoms of neuropathic pain was more frequent in patients with DM1 compared to the general population. Intra epidermal nerve fiber density was significantly lower in the DM1 group than in a sample of healthy controls. Neuropathy may be a mechanism of pain in DM1. Neurosurgery Neurology Myotonic Dystrophy chronic pain neuropathy neuromuscular disorder Figures Figure 1 Figure 2 Full Text Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-29770","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Research article","associatedPublications":[],"authors":[{"id":621338,"identity":"2373f06b-58bb-40eb-86f7-1fbbf08a00fd","order_by":0,"name":"Gro Solbakken","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAzElEQVRIiWNgGAWjYNCCggMM/CA6oYBoLQYHGCQbQFoMSNECRCAGEYrlow8f/vDB4I688fnViR8eGDDI84sdwK/F8FxamuQMg2eG22683SwBdJjhzNkJBLT08Jgx8xgcZtx24+wGkJYEg9uEtRh/Bmqx3zzj7OYfRGmR5+ExkAZqSdzA37uNOFsMeNjAfkmecYN3m0WCgQRhv8j3MANDrOKObX//2c03f1TYyPNLE7LlAIwlAVYpgV852JYGGIv/AG5Vo2AUjIJRMLIBAPz9RhyACq19AAAAAElFTkSuQmCC","orcid":"https://orcid.org/0000-0002-6534-7588","institution":"University of Oslo","correspondingAuthor":true,"submittingAuthor":false,"prefix":"","firstName":"Gro","middleName":"","lastName":"Solbakken","suffix":""},{"id":621339,"identity":"eeac5b3c-79e5-496b-8e2e-285a0f2b04a6","order_by":1,"name":"Sissel Løseth","email":"","orcid":"","institution":"Institute of clinical medicine, the Arctic University of Norway. Department of Neurology, University hospital of North Norway.","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Sissel","middleName":"","lastName":"Løseth","suffix":""},{"id":621340,"identity":"bfc3d75a-019d-474f-8221-a77baa9819c7","order_by":2,"name":"Terje Nærland","email":"","orcid":"","institution":"K.G.Jebsen-Centre for Neurodevelopmental Disorders, Institute of clinical medicine, University of Oslo.","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Terje","middleName":"","lastName":"Nærland","suffix":""},{"id":621341,"identity":"c7b882d5-8480-4a12-ab64-af5f655cd5a3","order_by":3,"name":"Jan Frich","email":"","orcid":"","institution":"Institute of health and society, University of Oslo","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Jan","middleName":"","lastName":"Frich","suffix":""},{"id":621342,"identity":"53beeefe-bebc-4b8b-a54a-9b340686674b","order_by":4,"name":"Espen Dietrichs","email":"","orcid":"","institution":"Institute of clinical medicine, University of Oslo. 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There was an overlap between large fiber findings and the two small fiber tests, as shown by the chess pattern.","description":"","filename":"1.PNG","url":"https://assets-eu.researchsquare.com/files/rs-29770/v1/1.PNG"},{"id":1233773,"identity":"3de1c06e-5aa3-415f-9e8e-f8119a1eded7","added_by":"auto","created_at":"2020-06-02 21:07:19","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":244835,"visible":true,"origin":"","legend":"Combination between objective findings and pain reports. The figure represents the group reporting symptoms typical for neuropathic pain, and the group reporting other types of pain. The circles show how patients’ subjective reports of pain overlap with different objective findings from investigations on large and small fiber neuropathy.","description":"","filename":"2.PNG","url":"https://assets-eu.researchsquare.com/files/rs-29770/v1/2.PNG"},{"id":1233775,"identity":"fe61b87d-7fa4-40ac-aa82-a882a374d15d","added_by":"auto","created_at":"2020-06-02 21:07:21","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":548875,"visible":true,"origin":"","legend":"","description":"","filename":"NeuropathicpaininDM1adultGS14mai20.pdf","url":"https://assets-eu.researchsquare.com/files/rs-29770/v1_stamped.pdf"},{"id":1233774,"identity":"318e280a-d6d1-4571-8efa-1f0935dbf42d","added_by":"auto","created_at":"2020-06-02 21:07:20","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":500915,"visible":true,"origin":"","legend":"","description":"","filename":"NeuropathicpaininDM1adultGS14mai20.pdf","url":"https://assets-eu.researchsquare.com/files/rs-29770/v1/NeuropathicpaininDM1adultGS14mai20.pdf"},{"id":13506890,"identity":"4b060b6d-3645-4758-8ead-0d5d673b937d","added_by":"auto","created_at":"2021-09-16 23:33:25","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":384667,"visible":true,"origin":"","legend":"","description":"","filename":"NeuropathicpaininDM1adultGS14mai20.pdf","url":"https://assets-eu.researchsquare.com/files/rs-29770/v1_covered.pdf"}],"financialInterests":"","formattedTitle":"Neuropathic pain in adult Myotonic Dystrophy type 1. Presence of small and large fibre neuropathy?","fulltext":[{"header":"Full Text","content":"\u003cp\u003eThis preprint is available for \u003ca href='/article/rs-29770/latest.pdf' target='_blank'\u003edownload as a PDF\u003c/a\u003e.\u003c/p\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":false,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":true,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Myotonic Dystrophy, chronic pain, neuropathy, neuromuscular disorder","lastPublishedDoi":"10.21203/rs.3.rs-29770/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-29770/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eBackground: Myotonic Dystrophy type 1 (DM1) is an inherited neuromuscular disorder affecting multiple organs. There is an increasing awareness of chronic pain in DM1. In this cross-sectional study, we investigated symptoms of neuropathic pain and small and large fiber neuropathy in the adult form of DM1. We also studied if neuropathy was related to the number of CTG repeats, disease duration and other clinical DM1 symptoms, and investigated if skin biopsy tests for small fiber neuropathy differed in the DM1 group compared to reference values from healthy controls.\u003c/p\u003e\u003cp\u003eMethods: 20 genetically verified DM1 adult patients were included in the study. Pain descriptions, neurologic examination and objective investigations of the peripheral nerve system by quantitative sensory testing, skin biopsies and neurography were conducted. Statistical analyses of group differences and frequencies were performed.\u003c/p\u003e\u003cp\u003eResults: Six patients (30%) out of 20 patients with DM1 described neuropathic pain, and three of these had objective findings on both small and large fiber neuropathy, as well as clinically sensory findings. Together, large and/or small fibre neuropathy is present in 50% of the patients with DM1. The intra epidermal nerve fiber density was significantly lower (p= \u0026lt;0.001, Cohen`s \u003cem\u003ed\u003c/em\u003e = 1.2) in the 20 patients with DM1 (mean 8.16, SD: 2.28) compared to a reference group (N = 106, mean 12.43, SD: 4.59). Patients with large fiber neuropathy had significantly lower muscle strength (p = 0.01, Cohen`s \u003cem\u003ed\u003c/em\u003e = 1.6, mean difference 0.4, CI: 0.7 - 0.1) than patients without large fiber neuropathy.\u003c/p\u003e\u003cp\u003eConclusion: Symptoms of neuropathic pain was more frequent in patients with DM1 compared to the general population. Intra epidermal nerve fiber density was significantly lower in the DM1 group than in a sample of healthy controls. Neuropathy may be a mechanism of pain in DM1.\u003c/p\u003e","manuscriptTitle":"Neuropathic pain in adult Myotonic Dystrophy type 1. 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