舞蹈样运动
舞蹈病
亨廷顿病
疾病
基因检测
亨廷顿蛋白
医学
遗传咨询
预测性试验
无症状的
重症监护医学
心理学
精神科
生物信息学
病理
内科学
遗传学
帕金森病
生物
运动障碍
作者
Thomas B. Stoker,Sarah L. Mason,Julia C. Greenland,Simon Holden,Helen Santini,Roger A. Barker
出处
期刊:Practical Neurology
[BMJ]
日期:2021-08-19
卷期号:22 (1): 32-41
被引量:70
标识
DOI:10.1136/practneurol-2021-003074
摘要
Huntington's disease (HD) is an inherited neurodegenerative disease characterised by neuropsychiatric symptoms, a movement disorder (most commonly choreiform) and progressive cognitive impairment. The diagnosis is usually confirmed through identification of an increased CAG repeat length in the huntingtin gene in a patient with clinical features of the condition. Though diagnosis is usually straightforward, unusual presentations can occur, and it can be difficult to know when someone has transitioned from being an asymptomatic carrier into the disease state. This has become increasingly important recently, with several putative disease-modifying therapies entering trials. A growing number of conditions can mimic HD, including rare genetic causes, which must be considered in the event of a negative HD genetic test. Patients are best managed in specialist multidisciplinary clinics, including when considering genetic testing. Current treatments are symptomatic, and largely directed at the chorea and neurobehavioural problems, although supporting trial evidence for these is often limited.
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