神经药理学报 ›› 2024, Vol. 14 ›› Issue (6): 31-.DOI: 10.3969/j.issn.2095-1396.2024.06.004

• 研究论文 • 上一篇    下一篇

四肢不自主运动为首发症状早期合并构音障碍的亨廷顿病1 例

李慧,杨金水,薛茜   

  1. 1. 河北北方学院研究生学院,张家口,075000,中国 

    2. 河北北方学院附属第一医院神经内科,张家口,075000,中国

  • 出版日期:2024-12-26 发布日期:2024-12-26
  • 通讯作者: 薛茜,主任医师,教授,硕士生导师;研究方向:神经内科疾病;E-mail:xueqian6166@163.com
  • 作者简介:李慧,河北北方学院2022级硕士研究生;研究方向:神经病学;E-mail:1804331506@qq.com

A Case of Huntington's Disease with Involuntary Movements of the Limbs as the First Symptom Combined with Dysarthria in the Early Stages of the Disease

LI Hui, YANG Jin-shui, XUE Qian   

  1. 1. Hebei North University, Zhangjaikou, 075000, China 

    2. The First Affiliated Hospital of Hebei North University, Zhangjiakou, 075000, China

  • Online:2024-12-26 Published:2024-12-26

摘要:

目的:探讨亨廷顿舞蹈病(Huntington disease,HD)患者临床特点,特别是非典型临床症状方面,加深对 亨廷顿舞蹈病临床特征的认识。方法:在患者知情、自愿的原则下,收集2022 年1 月河北北方学院附属第一医 院神经内一科收治的1 名HD 患者的临床资料,进行相关文献复习,并进行随访。结果:该患者家族中有2 人已 经出现肢体不自主运动症状,此先证者早期合并构音障碍,CAG 拷贝数为43 次,通过相关文献复习了解到言语 改变是HD 的早期症状,可能先于其他运动和认知症状发生。结论:HD 绝大多数有阳性家族史,临床以缓慢进 展的舞蹈症、精神障碍及痴呆为特征,早期可出现言语改变,晚期出现构音障碍及吞咽困难。

关键词: 亨廷顿病, 临床表现, 构音障碍, 早期诊断

Abstract:

Objective: To investigate the clinical characteristics of patients with Huntington's disease patients, especially the atypical clinical symptoms, to deepen the understanding of the clinical characteristics of Huntington's disease. Methods: The clinical data of one HD patient admitted to the Department of Neurology of the First Hospital Affiliated to Hebei North College in January 2022 were collected under the principle of patient's informed and voluntary consent, and the relevant literature was reviewed and followed up. Results: Two members of this patient's family had already developed symptoms of involuntary limb movements, and this pre-documented person had early comorbid dysarthria with a CAG copy number of 43, and it was understood from the relevant literature review that speech alterations are an early symptom of HD, which may precede the onset of other motor and cognitive symptoms. Conclusion: The vast majority of HD has a positive family history and is clinically characterised by slowly progressive chorea, psychotic disorders and dementia, with speech alterations in the early stages and dysarthria and dysphagia in the later stages.

Key words: Huntington's disease, clinical manifestations, dysarthria, early diagnosis

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