亨廷顿舞蹈病的临床特征(附4家系报道)  

Clinical features of Huntington's disease(report of 4 families)

作　　者：雷晶[1] 张艳[1] 马建华[1] 张小宁[1] LEI Jing;ZHANG Yan;MA Jian-hua(Depatment of Neurology,the First Affilated Hospital of Xinjiang Medical University,Urumqi 830054,China)

机构地区：[1]新疆医科大学第一附属医院神经内科,乌鲁木齐830054

出　　处：《临床神经病学杂志》2018年第4期291-293,共3页Journal of Clinical Neurology

基　　金：新疆自治区自然科学基金(2011211A063)

摘　　要：目的探讨亨廷顿舞蹈病(HD)的临床特征。方法回顾性分析4个HD家系的临床资料。结果本研究4个家系经基因检测确定4例HD患者,3例症状前患者。HD患者主要临床表现为肢体舞蹈样动作、认知下降及精神异常,其次为构音障碍、吞咽困难。眼球运动异常、肢体疼痛、抽搐、肌张力障碍等可能为其少见的临床表现。结论 HD患者除具有典型三联症外,可伴有眼球运动异常、肢体疼痛、肌张力障碍等少见症状。明确诊断仍需基因检测。Objective To investigate the clinical features of Huntington’s disease（ HD）. Methods The clinical data of 4 HD families were retrospectively analyzed. Results In the 4 HD families,4 HD patients and 3 presymptomatic HD patients were diagnosed by gene detection. The main clinical manifestations of HD patients were chorea,cognitive decline and mental disorders,secondly for dysarthria and dysphagia. And abnormal eye movement,limb pain,twitching and dystonia were rare clinical manifestations. Conclusions In addition to typical triad,HD patients can be accompanied by unusual symptoms such as abnormal eyeball movement,limb pain and dystonia.Definitive diagnosis is depend on gene detection.

关 键 词：亨廷顿舞蹈病 临床特征 家系 

分 类 号：R742.2[医药卫生—神经病学与精神病学]