[致命的家族性失眠症伴有不自主运动和姿势变化之间的显著相关性：一个病例的报告]。

Q4 Medicine

中国医学科学院学报 Pub Date : 2024-02-01 DOI:10.3881/j.issn.1000-503X.15589

Li Zhang, Hui Sun, Shi-Min Zhang, Sai Gao, Lei Wu, De-Hui Huang

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引用次数: 0

摘要

致命性家族性失眠症是一种常染色体显性朊病毒病，非常罕见。我们报告了一位被确诊为致命性家族性失眠症患者的临床症状、检查结果、诊断、治疗和预后，并描述了不自主运动和喉部哮鸣音与体位改变显著相关的独特临床表现，旨在为今后该病的临床诊断、治疗和研究提供参考。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

[Fatal Familial Insomnia With Significant Correlations Between Involuntary Movements and Postural Changes:Report of One Case].

Fatal familial insomnia,an autosomal dominant prion disease,is rare.We reported the clinical symptoms,examination results,diagnosis,treatment,and prognosis of a patient who was diagnosed with fatal familial insomnia.Furthermore,we described the unique clinical manifestations that involuntary movements and laryngeal stridor were significantly correlated with postural changes,aiming to provide reference for the clinical diagnosis,treatment,and research of the disease in the future.

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来源期刊

中国医学科学院学报 Medicine-Medicine (all)

CiteScore

0.60

自引率

0.00%

发文量

6813

期刊介绍： Acta Academiae Medicinae Sinicae was founded in February 1979. It is a comprehensive medical academic journal published in China and abroad, supervised by the Ministry of Health of the People's Republic of China and sponsored by the Chinese Academy of Medical Sciences and Peking Union Medical College. The journal mainly reports the latest research results, work progress and dynamics in the fields of basic medicine, clinical medicine, pharmacy, preventive medicine, biomedicine, medical teaching and research, aiming to promote the exchange of medical information and improve the academic level of medicine. At present, the journal has been included in 10 famous foreign retrieval systems and their databases [Medline (PubMed online version), Elsevier, EMBASE, CA, WPRIM, ExtraMED, IC, JST, UPD and EBSCO-ASP]; and has been included in important domestic retrieval systems and databases [China Science Citation Database (Documentation and Information Center of the Chinese Academy of Sciences), China Core Journals Overview (Peking University Library), China Science and Technology Paper Statistical Source Database (China Science and Technology Core Journals) (China Institute of Scientific and Technological Information), China Science and Technology Journal Paper and Citation Database (China Institute of Scientific and Technological Information)].