[Pubmed] Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2

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[Pubmed] Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2

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Front Neurol. 2022 Jul 18;13:932883. doi: 10.3389/fneur.2022.932883. eCollection 2022.

ABSTRACT

INTRODUCTION: Myotonic dystrophy type 2 (DM2) is a rare autosomal dominant multisystemic disease with highly variable clinical presentation. Several case reports and one cohort study suggested a significant association between DM2 and autoimmune diseases (AIDs).

AIM: The aim of this study is to analyze the frequency and type of AIDs in patients with DM2 from the Serbian DM registry.

PATIENTS AND METHODS: A total of 131 patients with DM2 from 108 families were included, [62.6% women, mean age at DM2 onset 40.4 (with standard deviation 13) years, age at entering the registry 52 (12.8) years, and age at analysis 58.4 (12.8) years]. Data were obtained from Akhenaten, the Serbian registry for DM, and through the hospital electronic data system.

RESULTS: Upon entering the registry, 35 (26.7%) of the 131 patients with DM2 had AIDs including Hashimoto thyroiditis (18.1%), rheumatoid arthritis, diabetes mellitus type 1, systemic lupus, Sjogren's disease, localized scleroderma, psoriasis, celiac disease, Graves's disease, neuromyelitis optica, myasthenia gravis, and Guillain-Barre syndrome. At the time of data analysis, one additional patient developed new AIDs, so eventually, 36 (28.8%) of 125 DM2 survivors had AIDs. Antinuclear antibodies (ANAs) were found in 14 (10.7%) of 63 tested patients, including 12 without defined corresponding AID (all in low titers, 1:40 to 1:160). Antineutrophil cytoplasmic antibodies (ANCAs) were negative in all 50 tested cases. The percentage of women was significantly higher among patients with AIDs (82.9% vs. 55.2%, p

Source: https://pubmed.ncbi.nlm.nih.gov/3592382 ... 4&v=2.17.7
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