Huntington's disease
Huntington's disease
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DOI：
10.1055/s-2007-971176
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发表时间：
2007-04-01
影响因子：
2.7
通讯作者：
Walker, Francis O.
中科院分区：
文献类型：
--
作者：
Walker, Francis O.
亨廷顿氏病可出现在任何年龄，但最典型的表现在35岁至45岁之间，表现为一种缓慢进展的神经退行性运动障碍，伴有认知和行为障碍。这是一种常染色体显性遗传性疾病，在为受影响的家庭成员提供护理以及受影响父母的后代处理高危状态方面对家庭结构和动态产生重大影响。目前尚无减缓进行性神经元功能障碍或变性的治疗方法，因此目前药物治疗的主要目标是控制行为和精神症状，在选定的病例中，控制严重的舞蹈症。然而，临床医生的有效干预是可能的，为患者和家属提供关于疾病的准确信息，建议他们在专门中心进行基因检测，并在工作、驾驶、人际关系、财务、研究参与和支持小组方面向他们提供合理的建议。
Huntington's disease may present at any age, but most typically manifests between the ages of 35 and 45 years as a slowly progressive neurodegenerative movement disorder with cognitive and behavioral impairment. It is an autosomal-dominant disorder that has a substantial impact on family structure and dynamics in terms of providing care for affected family members and, for the offspring of an affected parent, dealing with at-risk status. Therapy that slows the progressive neuronal dysfunction or degeneration is unavailable, so pharmacotherapy is currently aimed primarily at managing behavioral and psychiatric symptoms, and, in selected cases, controlling severe chorea. Effective intervention by clinicians is possible, however, in terms of providing patients and families with accurate information about the disease, counseling them about availability of genetic testing at specialized centers, and in giving them sound advice regarding work, driving, relationships, finances, research participation, and support groups.