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两名家庭成员的功能性和特发性颈肌张力障碍:一项具有挑战性的诊断。

Functional and Idiopathic Cervical Dystonia in Two Family Members: A Challenging Diagnosis.

机构信息

Neurology Unit, Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, IT.

Department of Neuroscience, University of Padua, Padua, IT.

出版信息

Tremor Other Hyperkinet Mov (N Y). 2020 Dec 11;10:51. doi: 10.5334/tohm.558.

DOI:10.5334/tohm.558
PMID:33354397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7731715/
Abstract

BACKGROUND

Cervical dystonia (CD) often occurs in the same family.

CASE REPORT

A 40-year-old woman presented with a longstanding history of CD and signs of inconsistency at history taking and neurological examination; her 65-year-old mother was diagnosed instead with idiopathic CD, which had begun 7 years after the onset of CD in her daughter.

DISCUSSION

Idiopathic and functional CD share common clinical and endophenotypic traits, making the differential diagnosis particularly challenging. A complete examination is warranted.

摘要

背景

颈部肌张力障碍(CD)常发生于同一家庭。

病例报告

一名 40 岁女性患有长期 CD,且在病史询问和神经系统检查中存在不一致迹象;她 65 岁的母亲被诊断为特发性 CD,该病在女儿 CD 发病 7 年后开始。

讨论

特发性和功能性 CD 具有共同的临床和表型特征,使得鉴别诊断特别具有挑战性。需要进行全面检查。

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Parkinsonism Relat Disord. 2019 Sep;66:9-15. doi: 10.1016/j.parkreldis.2019.02.020. Epub 2019 Feb 16.
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Dystonia.肌张力障碍
Handb Clin Neurol. 2018;159:229-236. doi: 10.1016/B978-0-444-63916-5.00014-8.
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Dystonia.肌张力障碍
Nat Rev Dis Primers. 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6.
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The premotor syndrome of cervical dystonia: Disordered processing of salient environmental stimuli.颈部肌张力障碍的运动前综合征:显著环境刺激的处理紊乱。
Mov Disord. 2018 Feb;33(2):232-237. doi: 10.1002/mds.27229. Epub 2017 Dec 4.
5
Emerging concepts in the physiological basis of dystonia.扭转痉挛的生理基础中的新观念。
Mov Disord. 2013 Jun 15;28(7):958-67. doi: 10.1002/mds.25532.
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Parkinsonism Relat Disord. 2013 Jun;19(6):634-8. doi: 10.1016/j.parkreldis.2013.02.017. Epub 2013 Mar 21.
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