Haskins BA, Harrison MB
Huntington's Disease Program, University of Virginia Health System 394, Charlottesville, VA 22908, USA.
Curr Treat Options Neurol. 2000 May;2(3):243-262. doi: 10.1007/s11940-000-0007-0.
Huntington's disease is a neurodegenerative disorder inherited in an autosomal dominant fashion that results in involuntary movements, psychiatric symptoms, and cognitive dysfunction. The illness typically begins in midlife and progresses over 15 to 20 years, producing increasing disability. The diagnosis of Huntington's disease in an individual has implications for family members as well, whose at-risk status may be altered by the diagnosis. Genetic counseling and information about alternative approaches (eg, clinical diagnosis, DNA banking) should be provided and consent obtained before DNA testing in a symptomatic patient. Genetic counseling is essential for predictive testing in asymptomatic at-risk individuals. Although disease-modifying therapy is not yet available, a multidisciplinary approach to both pharmacologic and nonpharmacologic management can improve the motor and psychiatric symptoms of the illness and enhance function and quality of life for patients and their families. There have been few rigorous trials of treatments for Huntington's disease. The medications discussed in this article have been empirically found to be useful in the management of specific symptoms. Therapy for the movement disorder should focus on those symptoms that specifically limit function. The potential contribution of medication side effects to disability should be periodically reassessed and therapy adjusted as the disease progresses. Psychiatric symptoms are a substantial source of morbidity in this disorder and should be actively treated because they are often quite responsive to appropriate therapy. Both the motor and the psychiatric symptoms can be modified by environmental as well as pharmacologic strategies. Ongoing assessment of the need for adjunctive therapies by means of physical, occupational, and speech therapy is an important component of management, and social work intervention is often necessary to assist with the practical difficulties faced by patients and caregivers. Voluntary organizations are an important source of information and support for professionals caring for patients with Huntington's disease as well as for patients and their families.
亨廷顿舞蹈症是一种以常染色体显性方式遗传的神经退行性疾病，会导致不自主运动、精神症状和认知功能障碍。该病通常始于中年，病程持续15至20年，致残程度逐渐加重。个体被诊断为亨廷顿舞蹈症对其家庭成员也有影响，诊断结果可能改变他们的患病风险状态。在对有症状的患者进行DNA检测之前，应提供遗传咨询以及关于其他方法（如临床诊断、DNA库）的信息并获得同意。对于无症状的患病风险个体进行预测性检测时，遗传咨询至关重要。尽管尚未有改变疾病进程的疗法，但采用多学科方法进行药物和非药物管理可以改善该病的运动和精神症状，并提高患者及其家人的功能和生活质量。针对亨廷顿舞蹈症治疗的严格试验很少。本文讨论的药物经经验证对管理特定症状有用。针对运动障碍的治疗应聚焦于那些特别限制功能的症状。随着疾病进展，应定期重新评估药物副作用对残疾的潜在影响，并调整治疗方案。精神症状是该疾病发病的一个重要来源，应积极治疗，因为它们通常对适当的治疗反应良好。运动和精神症状均可通过环境及药物策略得到改善。通过物理治疗、职业治疗和言语治疗持续评估辅助治疗的需求是管理的重要组成部分，社会工作干预通常对于帮助患者和护理人员应对实际困难是必要的。志愿组织是为照顾亨廷顿舞蹈症患者的专业人员以及患者及其家人提供信息和支持的重要来源。
