Jangsup Moon, Eungseok Oh, Minkyeong Kim, Ryul Kim, Dallah Yoo, Chaewon Shin, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon
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引用次数: 0
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.
韩国亨廷顿舞蹈病学会（KHDS）最近在今年4月的《运动障碍杂志》（Journal of Movement Disorders）上发表了针对韩国亨廷顿舞蹈病（HD）患者的临床方法实用指南本文是第二本实用指南，特别关注1)HD家庭遗传咨询的要点，涵盖未成年人检测和产前/植入前检测问题；2)预显HD和评估疾病严重程度和进展的有用实验室调查。本文的后一部分讨论了青少年和晚发性HD的特殊问题，以及HD患者的常见合并症。3)最后简要阐述了HD患者的管理原则。这些内容是由指导方针专责小组成员起草的。我们打算在本文中纳入包含韩国数据的已发表文献。我们相信这篇文章将成为韩国医生和运动障碍专家计划HD患者和家庭诊断检查和管理的口袋指南。
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