ArticleEuropean journal of neurology2025
IgG4-Related Disease Associated With Myotonic Dystrophy Type 2.
Article in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Current biomarker development in myotonic dystrophies.Journal of neurology · 2026Review
- IgG4-Related Disease Associated With Myotonic Dystrophy Type 2.European journal of neurology · 2025Article
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Authors and funding
6 authors.
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Abstract
BACKGROUND AND
aimsIgG4-related disease (IgG4-RD) 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-RD has not been described in this context.
methodsA case series of three patients with concurrent IgG4-RD and DM2.
resultsAll three patients, from a cohort of 47 patients with DM2 (prevalence = 6%), were male, aged 61-80 years 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-RD. All patients presented with a myopathic phenotype in the lower limbs, with myotonic discharges at myography.
interpretationThe prevalence of IgG4-RD 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-RD screening should be considered in DM2 patients with diabetes or/and atypical associated phenotypes. Additionally, genetic testing for DM2 should be considered in IgG4-RD patients with elevated creatine kinase levels, myopathic phenotype, cardiac disorders and/or cataracts. The present report also suggests that IgG4-RD may have a genetic predisposition, potentially elucidating an aspect of the disease's pathophysiology.
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