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亨廷顿舞蹈症——临床体征、症状、症状前诊断及诊断

Huntington's disease - clinical signs, symptoms, presymptomatic diagnosis, and diagnosis.

作者信息

Shannon Kathleen M

机构信息

Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, USA.

出版信息

Handb Clin Neurol. 2011;100:3-13. doi: 10.1016/B978-0-444-52014-2.00001-X.

Abstract

HD is a complex illness, with a broad clinical picture that begins years before clear motor onset and evolves over decades to a terminal state of extreme disability. It challenges the resources of families and communities and the skills of medical and ancillary health care providers. A broader understanding of the phenotypes, progression, and genetic basis of HD may elevate the standard of care for these deserving patients.

摘要

亨廷顿舞蹈症是一种复杂的疾病,临床表现广泛,在明显的运动症状出现前数年就已开始,并在数十年间逐渐发展至极度残疾的终末期状态。它给家庭和社区的资源以及医疗和辅助医疗服务提供者的技能都带来了挑战。对亨廷顿舞蹈症的表型、病程进展和基因基础有更广泛的了解,可能会提高为这些值得关注的患者提供的护理标准。

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