Survival in myotonic dystrophy type 1: a long time follow up-study with special reference to gastrointestinal symptoms.

IF 1.5 4区医学 Q2 MEDICINE, GENERAL & INTERNAL Upsala journal of medical sciences Pub Date : 2024-09-17 eCollection Date: 2024-01-01 DOI:10.48101/ujms.v129.10663

Anders Rönnblom, Anders Ekbom

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Abstract

Background: Myotonic dystrophy type 1 (DM1) is a monogenetic disease affecting many organs. Gastrointestinal symptoms are prevalent and of considerable consequences for affected individuals. The life expectancy is shortened and the objective of the study is to evaluate if gastrointestinal symptoms can predict the outcome of the disease.

Method: Fifty-one patients with DM1 were interviewed regarding symptoms from the gastrointestinal tract in the mid-1990s. Survival of all patients was evaluated in 2023 and the impact of symptoms on survival was assessed.

Results: At the beginning of the study, the mean age was 35.9 years, (median 37.0, 9-63). At the end of the study 47 out of the 51 patients were deceased at a mean age of 53.7 years (median 55.7, 32.5-79.0). Patients with the congenital form of DM1 (n = 6) died at an age of 46.0 years (median 45.2, 40.0-53.6). There was no correlation between the gastrointestinal symptoms and survival.

Conclusion: Albeit prevalent and of considerable clinical consequence, gastrointestinal symptoms are not correlated to survival in myotonic dystrophy type 1.

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1 型肌营养不良症患者的存活率：一项长期随访研究，特别关注胃肠道症状。

背景：1 型肌营养不良症（DM1）是一种影响多个器官的单基因疾病。胃肠道症状很普遍，对患者造成很大影响。患者的预期寿命缩短，本研究的目的是评估胃肠道症状能否预测疾病的预后：方法：在 20 世纪 90 年代中期，对 51 名 DM1 患者进行了有关胃肠道症状的访谈。结果：研究开始时，DM1患者的胃肠道症状并不明显：研究开始时，患者的平均年龄为 35.9 岁（中位数为 37.0 岁，9-63 岁）。研究结束时，51 名患者中有 47 人死亡，平均年龄为 53.7 岁（中位数为 55.7 岁，32.5-79.0 岁）。先天性DM1患者（6人）在46.0岁（中位45.2岁，40.0-53.6岁）时死亡。胃肠道症状与存活率之间没有相关性：结论：尽管胃肠道症状在1型肌营养不良症患者中很普遍，而且具有相当大的临床影响，但胃肠道症状与患者的存活率并不相关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Upsala journal of medical sciences 医学-医学：内科

CiteScore

5.60

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Upsala Journal of Medical Sciences is published for the Upsala Medical Society. It has been published since 1865 and is one of the oldest medical journals in Sweden. The journal publishes clinical and experimental original works in the medical field. Although focusing on regional issues, the journal always welcomes contributions from outside Sweden. Specially extended issues are published occasionally, dealing with special topics, congress proceedings and academic dissertations.