早期亨廷顿病的临床诊断和治疗:综述。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2015-03-25 eCollection Date: 2015-01-01 DOI:10.2147/DNND.S49135
Johannes Schiefer, Cornelius J Werner, Kathrin Reetz
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引用次数: 0

摘要

本文综述了常染色体显性遗传神经退行性亨廷顿病(HD)早期的临床诊断和药理学和非药理学治疗选择。运动、认知和精神方面的改变是这种破坏性进行性疾病的三个主要症状域,目前已有文献对此进行了综述。从临床角度来看,人们必须意识到HD表型在个体之间和疾病过程中可能有很大差异。此外,青少年HD的症状可能与成人HD的症状有很大不同。虽然HD无法治愈,治疗也很有限,但运动和精神症状通常对药物治疗有反应,非药物治疗和支持性护理是必不可少的。包括基于研究结果、批评性陈述和专家意见的国际治疗建议。本综述仅限于对症和支持性方法,因为迄今为止所有试图治愈该疾病或修改治疗方法的尝试都失败了。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical diagnosis and management in early Huntington's disease: a review.

This review focuses on clinical diagnosis and both pharmacological and nonpharmacological therapeutic options in early stages of the autosomal dominant inherited neurodegenerative Huntington's disease (HD). The available literature has been reviewed for motor, cognitive, and psychiatric alterations, which are the three major symptom domains of this devastating progressive disease. From a clinical point of view, one has to be aware that the HD phenotype can vary highly across individuals and during the course of the disease. Also, symptoms in juvenile HD can differ substantially from those with adult-onset of HD. Although there is no cure of HD and management is limited, motor and psychiatric symptoms often respond to pharmacotherapy, and nonpharmacological approaches as well as supportive care are essential. International treatment recommendations based on study results, critical statements, and expert opinions have been included. This review is restricted to symptomatic and supportive approaches since all attempts to establish a cure for the disease or modifying therapies have failed so far.

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