1型强直性肌营养不良的临床和治疗进展。

IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY
Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-05-16 DOI:10.1097/WCO.0000000000001374
Masanori P Takahashi
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引用次数: 0

摘要

回顾目的:1型肌强直性营养不良(DM1)是一种遗传介导的多系统神经肌肉疾病,具有显著的表型异质性。本综述旨在总结DM1的临床认识、自然历史和治疗发展的最新进展,重点是心脏、呼吸、认知和儿科方面。最新发现:纵向研究正在完善成人和儿童DM1的自然历史。生物标志物的发现,包括复合核糖体核酸剪接指标和成像结果,正在改善疾病监测和治疗评估。心脏风险分层正在发展,但由于依从性问题,呼吸管理仍然具有挑战性。人们越来越重视认知和行为障碍,特别是先天性和儿童期发病的DM1。虽然疾病改善疗法仍在开发中,但现实世界中有关症状治疗的数据,如美西汀和非药物干预,包括运动和认知行为治疗,提供了有价值的临床见解。摘要:最近的文献强调了在不同年龄组和器官系统中对DM1的理解取得了实质性进展。虽然目前还没有批准的疾病改善疗法,但正在进行的临床试验和生物标志物的进步带来了希望。这篇综述综合了这些发展,为临床管理和指导未来的研究工作提供了信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Update on the clinical and therapeutic aspects of myotonic dystrophy type 1.

Purpose of review: Myotonic dystrophy type 1 (DM1) is a genetically mediated, multisystemic neuromuscular disorder with significant phenotypic heterogeneity. This review aimed to summarize recent advances in clinical understanding, natural history, and therapeutic development, with a focus on cardiac, respiratory, cognitive, and pediatric aspects of DM1.

Recent findings: Longitudinal studies are refining the natural history of both adult and pediatric DM1. Advances in biomarker discovery, including composite ribosomal nucleic acid splicing metrics and imaging findings, are improving disease monitoring and treatment assessment. Cardiac risk stratification is evolving, although respiratory management remains challenging due to adherence issues. Increasing attention is being given to cognitive and behavioral impairments, particularly in congenital and childhood-onset DM1. Although disease-modifying therapies remain in development, real-world data on symptomatic treatments such as mexiletine and nonpharmacological interventions, including exercise and cognitive behavioral therapy, provide valuable clinical insights.

Summary: Recent literature highlights substantial progress in understanding DM1 across different age groups and organ systems. Although no approved disease-modifying therapies exist, ongoing clinical trials and biomarker advancements offer hope. This review synthesizes these developments to inform clinical management and guide future research efforts.

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来源期刊
Current Opinion in Neurology
Current Opinion in Neurology 医学-临床神经学
CiteScore
8.60
自引率
0.00%
发文量
174
审稿时长
6-12 weeks
期刊介绍: ​​​​​​​​Current Opinion in Neurology is a highly regarded journal offering insightful editorials and on-the-mark invited reviews; covering key subjects such as cerebrovascular disease, developmental disorders, neuroimaging and demyelinating diseases. Published bimonthly, each issue of Current Opinion in Neurology introduces world renowned guest editors and internationally recognized academics within the neurology field, delivering a widespread selection of expert assessments on the latest developments from the most recent literature.
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