Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.

Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.
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DOI:
10.1055/s-0043-1764292
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发表时间:
2023-02
影响因子:
2.7
通讯作者:
Sharma, Nutan
Sharma, Nutan
中科院分区:
医学3区
文献类型:
--
作者:
Stephen, Christopher D. D.;Dy-Hollins, Marisela;De Gusmao, Claudio Melo;Qahtani, Xena Al;Sharma, Nutan

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肌张力障碍是第三种最常见的运动障碍,其特征是与激动肌和拮抗肌的共同收缩有关的异常、频繁扭曲的姿势。诊断是具有挑战性的。我们根据肌张力障碍综合征的临床特征和潜在病因,对肌张力障碍的流行病学和现象学及分类方法进行了全面的评价。我们讨论了常见的特发性和遗传性肌张力障碍的特征,诊断挑战,以及肌张力障碍的模仿性。适当的检查是基于症状开始的年龄、进展率,无论肌张力障碍是孤立的还是合并其他运动障碍或复杂的神经系统和其他器官系统特征。基于这些特点,我们讨论了什么时候应该考虑成像和遗传。我们讨论了肌张力障碍的多学科治疗,包括根据病因的康复和治疗原则,包括何时可以进行发病机制的直接治疗,口服药物治疗,肉毒杆菌毒素注射化学去神经治疗,脑深部刺激和其他手术治疗,以及未来的方向。
Dystonia is the third most common movement disorder, characterized by abnormal, frequently twisting postures related to co-contraction of agonist and antagonist muscles. Diagnosis is challenging. We provide a comprehensive appraisal of the epidemiology and an approach to the phenomenology and classification of dystonia, based on the clinical characteristics and underlying etiology of dystonia syndromes. We discuss the features of common idiopathic and genetic forms of dystonia, diagnostic challenges, and dystonia mimics. Appropriate workup is based on the age of symptom onset, rate of progression, whether dystonia is isolated or combined with another movement disorder or complex neurological and other organ system features. Based on these features, we discuss when imaging and genetic should be considered. We discuss the multidisciplinary treatment of dystonia, including rehabilitation and treatment principles according to the etiology, including when pathogenesis-direct treatment is available, oral pharmacological therapy, chemodenervation with botulinum toxin injections, deep brain stimulation and other surgical therapies, and future directions.
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