{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,14]],"date-time":"2026-06-14T21:55:50Z","timestamp":1781474150938,"version":"3.54.1"},"reference-count":5,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,7,9]],"date-time":"2025-07-09T00:00:00Z","timestamp":1752019200000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background and Aims<\/jats:title><jats:p>IgG4\u2010related disease (IgG4\u2010RD) is a rare disease considered an acquired systemic autoimmune condition. Myotonic dystrophy type 2 (DM2) is a rare dominantly inherited multisystem disorder, with a high prevalence of associated autoimmune diseases, but IgG4\u2010RD has not been described in this context.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A case series of three patients with concurrent IgG4\u2010RD and DM2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All three patients, from a cohort of 47 patients with DM2 (prevalence\u2009=\u20096%), were male, aged 61\u201380\u2009years and exhibited at least pancreatic involvement. Elevated IgG4 levels were observed in blood, and two patients had lymphoplasmacytic infiltrates rich in IgG4+ plasma cells and CD4+ T cells, with fibrosis present in biopsies. In two cases, DM2 was diagnosed after IgG4\u2010RD. All patients presented with a myopathic phenotype in the lower limbs, with myotonic discharges at myography.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>The prevalence of IgG4\u2010RD in the cohort of DM2 herein is more than 1000 times higher than expected. As both diseases display common organ involvement, especially the pancreas, IgG4\u2010RD screening should be considered in DM2 patients with diabetes or\/and atypical associated phenotypes. Additionally, genetic testing for DM2 should be considered in IgG4\u2010RD patients with elevated creatine kinase levels, myopathic phenotype, cardiac disorders and\/or cataracts. The present report also suggests that IgG4\u2010RD may have a genetic predisposition, potentially elucidating an aspect of the disease's pathophysiology.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.70293","type":"journal-article","created":{"date-parts":[[2025,7,9]],"date-time":"2025-07-09T15:39:17Z","timestamp":1752075557000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<scp>IgG4<\/scp>\u2010Related Disease Associated With Myotonic Dystrophy Type 2"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1563-9432","authenticated-orcid":false,"given":"Antoine","family":"Pegat","sequence":"first","affiliation":[{"name":"Service d'ENMG et de Pathologies Neuromusculaires, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires PACA\u2010R\u00e9union\u2010Rh\u00f4ne\u2010Alpes H\u00f4pital Neurologique Pierre, Wertheimer, Hospices Civils de Lyon, Groupement Est  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Svahn","sequence":"additional","affiliation":[{"name":"Service d'ENMG et de Pathologies Neuromusculaires, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires PACA\u2010R\u00e9union\u2010Rh\u00f4ne\u2010Alpes H\u00f4pital Neurologique Pierre, Wertheimer, Hospices Civils de Lyon, Groupement Est  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Gerfaud\u2010Valentin","sequence":"additional","affiliation":[{"name":"Service de m\u00e9decine Interne H\u00f4pital Saint Joseph Saint Luc  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecile\u2010Audrey","family":"Durel","sequence":"additional","affiliation":[{"name":"Service de m\u00e9decine Interne H\u00f4pital Saint Joseph Saint Luc  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Durupt","sequence":"additional","affiliation":[{"name":"Service de m\u00e9decine Interne H\u00f4pital Lyon Sud, Hospices Civils de Lyon  Pierre\u2010B\u00e9nite France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilien","family":"Bernard","sequence":"additional","affiliation":[{"name":"Service d'ENMG et de Pathologies Neuromusculaires, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires PACA\u2010R\u00e9union\u2010Rh\u00f4ne\u2010Alpes H\u00f4pital Neurologique Pierre, Wertheimer, Hospices Civils de Lyon, Groupement Est  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/rap\/rkae020"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.36185\/2532\u20101900\u2010026"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.156562"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.932883"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010024\u201045535\u20101"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.70293","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,9]],"date-time":"2025-07-09T15:39:18Z","timestamp":1752075558000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.70293"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":5,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1111\/ene.70293"],"URL":"https:\/\/doi.org\/10.1111\/ene.70293","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"2025-04-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70293"}}