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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亨廷顿病：诊断和管理

亨廷顿病 (HD) 是一种遗传性神经退行性疾病，其特征是神经精神症状、运动障碍（最常见的舞蹈症）和进行性认知障碍。通常通过在具有该病临床特征的患者中鉴定亨廷顿基因中增加的 CAG 重复长度来确认诊断。虽然诊断通常很简单，但可能会出现不寻常的表现，并且很难知道某人何时从无症状携带者转变为疾病状态。这在最近变得越来越重要，一些推定的疾病改善疗法正在进入试验阶段。越来越多的情况可以模仿 HD，包括罕见的遗传原因，在 HD 基因检测阴性的情况下必须考虑这些原因。最好在专业的多学科诊所对患者进行管理，包括在考虑基因检测时。目前的治疗是对症的，主要针对舞蹈症和神经行为问题，尽管支持这些的试验证据通常是有限的。