Huntington病5个家系的临床特征及文献复习

Clinical characteristics of Huntington's disease in 5 kindreds and review

目的了解Huntington病的临床特点和治疗。 方法分析 5个典型家系的临床特征。经文献复习 ,介绍本病的治疗进展。结果 5个家系呈常染色体显性遗传 ,均为成人型。逐渐进展的运动障碍、认知衰退和精神障碍是主要临床症状。在疾病的早期 ,常表现为轻微的情感症状和轻微的不自主运动。舞蹈症是就诊的原因 ,CT显示脑萎缩。结论典型的临床表现和明确的家族史可作出初步临床诊断 ,对危险人群进行神经心理筛查有助于早期诊断 ,基因检查可以帮助确诊。药物、职业作业疗法和心理综合治疗可以使患者保持最好的功能 ,从而可提高生活质量。

ObjectiveTo understand the clinical characteristics and therapy of Huntington's disease (HD).MethodsThe clinical characteristics of five typical kindreds with HD were analysed. The therapeutic progression after reviewing literature was summarized.ResultsFive kindreds inherited in an autosomal dominant manner. They were all adult-onset HD.Progressive motor dysfunction,cognitive decline,emotional and behavioral disturbance were the key clinical presentations. At an early stage, manifestations include subtle emotional symptoms and involuntary movements.The reason of visiting doctor was chorea. CT scans demonstrated brain atrophy.ConclusionsTypical clinical manifestation and clear family history may be enough to make primary diagnosis. Psychological evaluation at risk individual may help to diagnose early. Gene testing may confirm the diagnosis of HD. The drugs and occupational,physical therapy and psychotherapy for HD patients can help maintain the highest level of function and improve the quality of life.