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Nationwide incidence of myotonic dystrophy type 1 and the status of multi-organ involvement

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Abstract

Purpose

This study aimed to investigate the incidence of myotonic dystrophy type 1 (DM1) and the status of multi-organ involvement.

Methods

This was a nationwide, population-based, cohort study using data from the Korean National Health Claims database. All patients with DM1 from the entire population aged ≤ 80 years were included. To identify possible systemic diseases along with DM1, we searched for concurrent codes for systemic diseases. To assess the recent status of systemic evaluation, concurrent codes for various diagnostic and treatment modalities were collected. Cumulative incidence during 2016–2019 was first evaluated then systemic evaluation for those patients was assessed during 2010–2019.

Results

A total of 387 patients (47.8% men) during the recent 4-year study period (2016–2019) were diagnosed with DM1. The cumulative incidence in the general population was 0.77 (95% confidence interval: 0.76–0.77) per 100,000 persons. In newly developed incidental cases, cardiac involvement developed in 51.2%, pneumonia in 30.7%, diabetes in 26.9%, brain involvement in 18.1%, cataract in 13.7%, and cancers in 5.4% of total patients. Electrocardiography was performed in 93.8%, Holter in 33.9%, and echocardiography in 31.3% of the total patients for cardiac evaluation.

Conclusions

The incidence estimates of DM1 in the Asian population were lower than those of Caucasians. This study provides the real situation of screening and treatment for systemic diseases related to DM1. These detailed estimates could promote an understanding of the current disease status and allow for appropriate planning within the healthcare system.

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Data availability

The raw data used in this study can be extracted by request from any qualified investigator through the national HIRA system.

Availability of all data and materials as well as software application or custom code

The outflow of all data to the outside is strictly prohibited by national security law. The raw data used in this study can be extracted by request from any qualified investigator through national HIRA system.

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Funding

This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korean government (MSIT) (2020R1F1A1072264).

Author information

Authors and Affiliations

  1. Department of Ophthalmology, Myongji Hospital, Hanyang University College of Medicine, Goyang, South Korea

    Ju-Yeun Lee

  2. Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea

    Ju-Yeun Lee

  3. Integrated Major in Innovative Medical Science, Seoul National University College of Medicine, Seoul, South Korea

    Ju-Yeun Lee

  4. Department of Neurology, Myongji Hospital, Hanyang University College of Medicine, 55, Hwasu-ro 14, Deogyang-gu, Goyang-si, Gyeonggi-do, 10475, Republic of Korea

    Ha-Neul Jeong

  5. Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea

    Ha-Neul Jeong

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  1. Ju-Yeun Lee
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Contributions

JYL contributed to study concept and design, analysis and interpretation of data, draft and revision of the manuscript. Lee reports no disclosure. HNJ contributed to study concept and design, acquisition of data, interpretation of data, draft and revision of the manuscript. Jeong reports no disclosure.

Corresponding author

Correspondence to Ha-Neul Jeong.

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None of the authors has conflicts of interest with the submission to declare.

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Lee, JY., Jeong, HN. Nationwide incidence of myotonic dystrophy type 1 and the status of multi-organ involvement. J Neurol 269, 2666–2672 (2022). https://doi.org/10.1007/s00415-021-10875-1

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  • DOI: https://doi.org/10.1007/s00415-021-10875-1

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