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Myotonic dystrophy type 1 in South Korea: a comprehensive analysis of cancer and comorbidity risks

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Abstract

Background and purpose

Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder characterized by myotonia and progressive muscle weakness. Beyond the primary symptoms, there is growing concern regarding a higher incidence of certain comorbidities in DM1 patients, including cancer, diabetes, thyroid dysfunction, and cataracts. This study was designed to examine the occurrence of these conditions among patients diagnosed with DM1 in South Korea, using data from the National Health Insurance Service database.

Methods

The study undertook a comprehensive review of 3,842 patients diagnosed with DM1 between 2012 and 2018. We assessed the incidence of cancer and the prevalence of diabetes, thyroid dysfunction, and cataracts among these patients, comparing their rates to those in the general population.

Results

In the study cohort, 463 out of 3,842 DM1 patients (12.04%) were diagnosed with cancer, indicating a substantial elevation in cancer risk with an overall standard incidence ratio of 1.9 (95% CI = 1.6–2.3, p < 0.01) when compared to the expected rates in the general population. Moreover, the prevalence of diabetes (15.2%) and thyroid dysfunction (17.6%) was noteworthy in the DM1 population. The mean age at which DM1 patients underwent cataract surgery was 55.07 years, noticeably younger than the mean age of 69.25 years for cataract surgery in the general population.

Conclusions

DM1 patients have a noteworthy occurrence of several comorbidities such as cancer, diabetes, thyroid dysfunction, and earlier cataract surgery. This highlights the importance of a comprehensive and integrative approach to the management and treatment of DM1, going beyond addressing only the primary neuromuscular symptoms. More research is required to understand the underlying mechanisms contributing to these comorbidities in DM1 patients, which may inform preventative measures and guide improvements in patient care.

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Data availability

The data that support the findings of this study are available from Health Insurance Review and Assessment Service (HIRA) research database. Restrictions apply to the availability of these data, which were used under license for this study. Data are available [https://opendata.hira.or.kr/] with the permission of HIRA.

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Acknowledgements

This work was supported by a National Research Foundation of Korea grant funded by the Ministry of Science and ICT (NRF-2018R1C1B5045675 and NRF-2022R1F1A1074366) and the Health Insurance Review and Assessment Service of the Republic of Korea (M20190726874).

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Authors and Affiliations

  1. Department of Immunology, School of Medicine, Kyungpook National University, Daegu, Republic of Korea

    Incheol Seo

  2. Department of Neurology, Dongguk University Gyeongju Hospital, Dongguk University College of Medicine, Gyeongju, Republic of Korea

    Jin-Mo Park

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  1. Incheol Seo
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Correspondence to Jin-Mo Park.

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The authors declare no competing interests.

Compliance with ethical standards

This study was approved by the Institutional Review Board of Dongguk University Gyeongju Hospital (110757–201907-HR-06–02) and informed consents were waived for this study due to its retrospective design, involving the analysis of anonymized claims data from the HIRA.

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Seo, I., Park, JM. Myotonic dystrophy type 1 in South Korea: a comprehensive analysis of cancer and comorbidity risks. Neurol Sci (2024). https://doi.org/10.1007/s10072-024-07527-3

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