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眼睑痉挛、口下颌肌张力障碍和梅杰综合征:临床与遗传学新进展

Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.

作者信息

Ma Hongying, Qu Jian, Ye Liangjun, Shu Yi, Qu Qiang

机构信息

Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, China.

National Clinical Research Center for Geriatric Disorders, Institute for Rational and Safe Medication Practices, Xiangya Hospital, Central South University, Changsha, China.

出版信息

Front Neurol. 2021 Mar 29;12:630221. doi: 10.3389/fneur.2021.630221. eCollection 2021.

DOI:10.3389/fneur.2021.630221
PMID:33854473
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8039296/
Abstract

Meige syndrome (MS) is cranial dystonia characterized by the combination of upper and lower cranial involvement and including binocular eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia; OMD). The etiology and pathogenesis of this disorder of the extrapyramidal system are not well-understood. Neurologic and ophthalmic examinations often reveal no abnormalities, making diagnosis difficult and often resulting in misdiagnosis. A small proportion of patients have a family history of the disease, but to date no causative genes have been identified to date and no cure is available, although botulinum toxin A therapy effectively mitigates the symptoms and deep brain stimulation is gaining increasing attention as a viable alternative treatment option. Here we review the history and progress of research on MS, BSP, and OMD, as well as the etiology, pathology, diagnosis, and treatment.

摘要

梅杰综合征(MS)是一种颅肌张力障碍,其特征是上下颅神经受累,包括双眼睑痉挛(眼睑痉挛;BSP)和下颌肌肉的不自主运动(口下颌肌张力障碍;OMD)。这种锥体外系疾病的病因和发病机制尚未完全明确。神经科和眼科检查通常未发现异常,这使得诊断困难,常常导致误诊。一小部分患者有该病的家族史,但迄今为止尚未确定致病基因,也没有治愈方法,尽管肉毒杆菌毒素A疗法可有效缓解症状,深部脑刺激作为一种可行的替代治疗选择正受到越来越多的关注。在此,我们综述了梅杰综合征、眼睑痉挛和口下颌肌张力障碍的研究历史与进展,以及其病因、病理、诊断和治疗。

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本文引用的文献

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Secondary blepharospasm, analysis and pathophysiology of blepharospasm.继发性眼睑痉挛,眼睑痉挛的分析和病理生理学。
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Development and Validation of a Disease-Specific Oromandibular Dystonia Rating Scale (OMDRS).特定疾病的口下颌肌张力障碍评定量表(OMDRS)的开发与验证
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Similar Long-Term Clinical Outcomes of Deep Brain Stimulation With Different Electrode Targets for Primary Meige Syndrome: One Institution's Experience of 17 Cases.不同电极靶点深部脑刺激治疗原发性 Meige 综合征的长期临床疗效相似:单中心 17 例经验。
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CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm.CYP1A2 rs762551 和 ADORA2A rs5760423 多态性与眼睑痉挛患者相关。
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