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韩国亨廷顿舞蹈症患者诊断检查及特殊注意事项实用指南。

A Practical Guide for Diagnostic Investigations and Special Considerations in Patients With Huntington's Disease in Korea.

作者信息

Moon Jangsup, Oh Eungseok, Kim Minkyeong, Kim Ryul, Yoo Dallah, Shin Chaewon, Lee Jee-Young, Kim Jong-Min, Koh Seong-Beom, Kim Manho, Jeon Beomseok

机构信息

Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.

出版信息

J Mov Disord. 2025 Jan;18(1):17-30. doi: 10.14802/jmd.24232. Epub 2024 Dec 26.

Abstract

This review provides a comprehensive framework for the diagnostic approach and management of Huntington's disease (HD) tailored to the Korean population. Key topics include genetic counseling, predictive testing, and reproductive options like preimplantation genetic testing. Strategies for assessing disease progression in premanifest HD through laboratory investigations, biofluid, and imaging biomarkers are highlighted. Special considerations for juvenile and late-onset HD, along with associated comorbidities like diabetes mellitus, hypertension, and cardiovascular abnormalities, are discussed. The guide emphasizes personalized symptom management, including pharmacotherapy, physical therapy, and nutritional support, while exploring emerging disease-modifying treatments. A multidisciplinary care model is advocated to improve outcomes for HD patients and caregivers in Korea.

摘要

本综述为针对韩国人群的亨廷顿舞蹈症(HD)诊断方法和管理提供了一个全面的框架。关键主题包括遗传咨询、预测性检测以及诸如植入前基因检测等生殖选择。重点介绍了通过实验室检查、生物流体和成像生物标志物评估临床前HD疾病进展的策略。讨论了青少年和迟发性HD的特殊注意事项,以及糖尿病、高血压和心血管异常等相关合并症。该指南强调个性化症状管理,包括药物治疗、物理治疗和营养支持,同时探索新兴的疾病修饰治疗方法。提倡采用多学科护理模式,以改善韩国HD患者及其护理人员的治疗效果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52b8/11824489/5319f81d9cee/jmd-24232f1.jpg

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