Lee Ju-Yeun, Jeong Ha-Neul
Department of Ophthalmology, Myongji Hospital, Hanyang University College of Medicine, Goyang, South Korea.
Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.
J Neurol. 2022 May;269(5):2666-2672. doi: 10.1007/s00415-021-10875-1. Epub 2021 Oct 26.
This study aimed to investigate the incidence of myotonic dystrophy type 1 (DM1) and the status of multi-organ involvement.
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.
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.
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.
本研究旨在调查1型强直性肌营养不良（DM1）的发病率及多器官受累情况。
这是一项基于韩国全国健康保险理赔数据库数据的全国性、基于人群的队列研究。纳入了所有年龄≤80岁的DM1患者。为识别与DM1相关的可能的全身性疾病，我们搜索了全身性疾病的并发编码。为评估全身性评估的近期情况，收集了各种诊断和治疗方式的并发编码。首先评估2016 - 2019年期间的累积发病率，然后评估2010 - 2019年期间这些患者的全身性评估情况。
在最近4年的研究期（2016 - 2019年）内，共诊断出387例DM1患者（男性占47.8%）。普通人群中的累积发病率为每10万人0.77（95%置信区间：0.76 - 0.77）。在新发病例中，心脏受累的患者占总患者的51.2%，肺炎占30.7%，糖尿病占26.9%，脑部受累占18.1%，白内障占13.7%，癌症占5.4%。为进行心脏评估，93.8%的总患者进行了心电图检查，33.9%进行了动态心电图监测，31.3%进行了超声心动图检查。
亚洲人群中DM1的发病率估计低于白种人。本研究提供了与DM1相关的全身性疾病筛查和治疗的实际情况。这些详细的估计有助于了解当前的疾病状况，并在医疗保健系统内进行适当规划。
