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IgG4‐Related Disease Associated With Myotonic Dystrophy Type 2.

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Title: IgG4‐Related Disease Associated With Myotonic Dystrophy Type 2.
Authors: Pegat, Antoine (AUTHOR), Svahn, Juliette (AUTHOR), Gerfaud‐Valentin, Mathieu (AUTHOR), Durel, Cecile‐Audrey (AUTHOR), Durupt, Stéphane (AUTHOR), Bernard, Emilien (AUTHOR)
Source: European Journal of Neurology. Jul2025, Vol. 32 Issue 7, p1-3. 3p.
Subjects: Autoimmune diseases, Neuromuscular diseases, Scientific observation, Genetic risk score, Pancreatic diseases
Abstract: Background and Aims: IgG4‐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. Methods: A case series of three patients with concurrent IgG4‐RD and DM2. Results: All 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. Interpretation: The 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. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Group: Ti
  Data: IgG4‐Related Disease Associated With Myotonic Dystrophy Type 2.
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  Data: <searchLink fieldCode="AR" term="%22Pegat%2C+Antoine%22">Pegat, Antoine</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Svahn%2C+Juliette%22">Svahn, Juliette</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gerfaud‐Valentin%2C+Mathieu%22">Gerfaud‐Valentin, Mathieu</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Durel%2C+Cecile‐Audrey%22">Durel, Cecile‐Audrey</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Durupt%2C+Stéphane%22">Durupt, Stéphane</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bernard%2C+Emilien%22">Bernard, Emilien</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Jul2025, Vol. 32 Issue 7, p1-3. 3p.
– Name: Subject
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  Data: <searchLink fieldCode="DE" term="%22Autoimmune+diseases%22">Autoimmune diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Neuromuscular+diseases%22">Neuromuscular diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Scientific+observation%22">Scientific observation</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+risk+score%22">Genetic risk score</searchLink><br /><searchLink fieldCode="DE" term="%22Pancreatic+diseases%22">Pancreatic diseases</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: Background and Aims: IgG4‐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. Methods: A case series of three patients with concurrent IgG4‐RD and DM2. Results: All 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. Interpretation: The 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. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              Text: Jul2025
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