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| 新疆地区亨廷顿病患者临床特征研究及文献复习 |
| Clinical Characteristics of Huntington's Disease Patients in Xinjiang Region and Literature Review |
| 投稿时间：2025-04-08 修订日期：2025-04-08 |
| DOI： |
| 中文关键词: 亨廷顿病 舞蹈病 认知障碍 精神行为异常 临床特征 |
| 英文关键词: Huntington's disease, Chorea,Cognitive impairmen,Psychiatric and behavioral abnormalities,Clinical features |
| 基金项目:新疆医科大学第一附属医院青年科研启航专项基金项目资助（2022YFY-QKQN-58） |
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| 中文摘要: |
| 目的 探讨新疆地区亨廷顿病（HD）患者的临床特征。方法 回顾性分析15例HD患者的临床资料，并结合国内外数据库中已报道相关文献资料进行分析。结果 15例患者中家系病例10例，散发5例；汉族患者14例，维吾尔族患者1例；男性5例，女性10例。有12例（80%）患者以运动障碍为首发症状，3例（20%）患者以精神行为异常为首发症状，12例（80%）患者伴有不同程度的认知障碍，此外患者病程中伴有步态平衡障碍、共济失调、肌张力障碍、肌强直、吞咽困难等其他运动障碍症状及多汗、睡眠障碍、体重减轻等临床表现。结论 HD患者除具有典型三联症状外，可伴有其他少见运动障碍症状以及多汗、睡眠障碍、体重减轻等临床表现，当以精神行为异常和认知障碍为首发症状时应引起医生重视，早期识别、诊断及治疗有助于患者症状改善。 |
| 英文摘要: |
| Objective To investigate the clinical features of Huntington's disease (HD) patients in Xinjian. Methods The clinical data of 15 HD patients were retrospectively analyzed, the relevant literature published in both domestic and international databases was analyzed . Results Among the 15 patients, 10 were family cases and 5 were sporadic cases; 14 were Han nationality patients and 1 were Uyghur nationality patient; 5 were male and 10 were female. Eighty percent (12/15) of the patients presented with motor dysfunction as the initial symptom, while 20% (3/15) presented with psychiatric and behavioral abnormalities as the initial symptom. Eighty percent (12/15) of the patients had varying degrees of cognitive impairment, and other movement disorder symptoms such as gait and balance disorders, ataxia, dystonia, myotonia, dysphagia, and excessive sweating, sleep disorders, and weight loss were also present in the course of the disease. Conclusion In addition to the typical triad of symptoms, HD patients may also have other less common movement disorder symptoms and clinical manifestations such as excessive sweating, sleep disorders, and weight loss. When psychiatric and behavioral abnormalities and cognitive impairment are the initial symptoms, physicians should pay attention to them. Early recognition, diagnosis, and treatment can help improve the symptoms of the patients. |
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