关键词: Blepharospasm Dystonia Meige syndrome Oromandibular dystonia eyes jaw phenotype

来  源:   DOI:10.3389/dyst.2022.10359   PDF(Pubmed)

Abstract:
UNASSIGNED: Blepharospasm is a type of dystonia where the diagnosis is often delayed because its varied clinical manifestations are not well recognized. The purpose of this study was to provide a comprehensive picture of its clinical features including presenting features, motor features, and non-motor features.
UNASSIGNED: This was a two-part study. The first part involved a systematic literature review that summarized clinical features for 10,324 cases taken from 41 prior reports. The second part involved a summary of clinical features for 884 cases enrolled in a large multicenter cohort collected by the Dystonia Coalition investigators, along with an analysis of the factors that contribute to the spread of dystonia beyond the periocular region.
UNASSIGNED: For cases in the literature and the Dystonia Coalition, blepharospasm emerged in the 50s and was more frequent in women. Many presented with non-specific motor symptoms such as increased blinking (51.9%) or non-motor sensory features such as eye soreness or pain (38.7%), photophobia (35.5%), or dry eyes (10.7%). Non-motor psychiatric features were also common including anxiety disorders (34-40%) and depression (21-24%). Among cases presenting with blepharospasm in the Dystonia Coalition cohort, 61% experienced spread of dystonia to other regions, most commonly the oromandibular region and neck. Features associated with spread included severity of blepharospasm, family history of dystonia, depression, and anxiety.
UNASSIGNED: This study provides a comprehensive summary of motor and non-motor features of blepharospasm, along with novel insights into factors that may be responsible for its poor diagnostic recognition and natural history.
摘要:
UNASSIGNED:眼睑痉挛是肌张力障碍的一种类型,由于其各种临床表现未被很好地识别,因此通常会延迟诊断。这项研究的目的是提供其临床特征的全面图片,包括呈现特征,电机功能,和非运动的特点。
UNASSIGNED:这是一个两部分的研究。第一部分涉及系统的文献综述,总结了从41例先前报告中获取的10,324例病例的临床特征。第二部分包括由张力障碍联盟研究人员收集的大型多中心队列中的884例患者的临床特征摘要。以及对导致肌张力障碍扩散到眼周区域以外的因素的分析。
未经评估:对于文献和肌张力障碍联盟中的案例,眼睑痉挛出现在50年代,在女性中更为常见。许多人表现为非特异性运动症状,如眨眼增加(51.9%)或非运动感觉特征,如眼睛疼痛或疼痛(38.7%)。畏光(35.5%),或干眼症(10.7%)。非运动精神病特征也很常见,包括焦虑症(34-40%)和抑郁症(21-24%)。在肌张力障碍联盟队列中出现眼睑痉挛的病例中,61%的人经历了肌张力障碍向其他地区的传播,最常见的是口下颌区和颈部。与传播相关的特征包括眼睑痉挛的严重程度,肌张力障碍家族史,抑郁症,和焦虑。
UNASSIGNED:这项研究提供了眼睑痉挛的运动和非运动特征的全面总结,以及对可能导致其诊断识别和自然史不佳的因素的新颖见解。
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