Walker Francis O
Department of Neurology, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157-1078, USA.
Semin Neurol. 2007 Apr;27(2):143-50. doi: 10.1055/s-2007-971176.
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.
亨廷顿舞蹈症可在任何年龄出现，但最典型的是在35至45岁之间表现为一种伴有认知和行为障碍的缓慢进展性神经退行性运动障碍。它是一种常染色体显性疾病，在为受影响家庭成员提供护理方面，以及对于受影响父母的后代而言，在应对患病风险方面，对家庭结构和家庭动态有着重大影响。目前尚无减缓进行性神经元功能障碍或退化的疗法，因此药物治疗目前主要旨在管理行为和精神症状，在某些情况下，控制严重的舞蹈症。然而，临床医生可以进行有效的干预，为患者及其家人提供有关该疾病的准确信息，就专门中心提供基因检测的情况为他们提供咨询，并就工作、驾驶、人际关系、财务、研究参与和支持小组等方面给予他们合理的建议。
