Muscle Channelopathies and Rhabdomyolysis.

Q1 Medicine
Hani Kushlaf
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引用次数: 0

Abstract

Objective: This article describes the clinical approach to rhabdomyolysis and the diagnosis and management of episodic disorders of skeletal muscle including skeletal muscle channelopathies.

Latest developments: New gene variants that cause periodic paralysis have been identified. While these are exceedingly rare, they are now included in relevant genetic testing panels. Dantrolene is emerging as an additional option for the treatment of severe muscle stiffness, along with typical sodium channel blockers in sodium channel myotonia. Deep phenotyping in Andersen-Tawil syndrome shows significant heterogeneity with new features such as fasciculations, pain, and fatigue. A normal screening ECG is insufficient to rule out a diagnosis of Andersen-Tawil syndrome. In patients with episodic weakness, Holter monitoring is required to further investigate the possibility of Andersen-Tawil syndrome. Growth/differentiation factor-15 and fibroblast growth factor 21 serve as biomarkers of mitochondrial myopathies and can point to a mitochondrial etiology in patients with rhabdomyolysis. This article also discusses recently identified genetic abnormalities associated with rhabdomyolysis and highlights the current approach for evaluating unprovoked rhabdomyolysis.

Essential points: Episodic disorders of skeletal muscles include skeletal muscle channelopathies and rhabdomyolysis. The genetic variants that underlie both disorders can also cause persistent and progressive muscle weakness. The availability and expanded use of genetic testing allow for the identification of new genes causing periodic paralysis and rhabdomyolysis. Diagnostic approaches are evolving due to easier access to and availability of genetic testing. Advances in diagnostic techniques have highlighted the lag in therapeutics for patients with these rare disorders.

肌肉通道病和横纹肌溶解。
目的:本文介绍了横纹肌溶解的临床方法,以及包括骨骼肌通道病在内的发作性骨骼肌疾病的诊断和治疗。最新进展:导致周期性瘫痪的新基因变异已被发现。虽然这种情况极为罕见,但它们现在被纳入了相关的基因检测小组。丹曲林正在成为治疗严重肌肉僵硬的另一种选择,与典型的钠通道阻滞剂一起治疗钠通道肌强直。Andersen-Tawil综合征的深层表型显示出显著的异质性,具有新的特征,如肌束、疼痛和疲劳。正常的心电图筛查不足以排除安徒生-塔威尔综合征的诊断。对于间歇性虚弱的患者,需要进行动态心电图监测,以进一步调查安徒生-塔威尔综合征的可能性。生长/分化因子-15和成纤维细胞生长因子21作为线粒体肌病的生物标志物,可以指出横纹肌溶解患者的线粒体病因。本文还讨论了最近发现的与横纹肌溶解相关的遗传异常,并强调了目前评估无端横纹肌溶解的方法。要点:发作性骨骼肌疾病包括骨骼肌通道病和横纹肌溶解。这两种疾病背后的基因变异也可能导致持续和进行性肌肉无力。基因检测的可用性和扩大使用允许识别导致周期性麻痹和横纹肌溶解的新基因。由于更容易获得和获得基因检测,诊断方法正在不断发展。诊断技术的进步凸显了这些罕见疾病患者治疗方法的滞后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
5.80
自引率
0.00%
发文量
175
期刊介绍: Continue your professional development on your own schedule with Continuum: Lifelong Learning in Neurology®, the American Academy of Neurology" self-study continuing medical education publication. Six times a year you"ll learn from neurology"s experts in a convenient format for home or office. Each issue includes diagnostic and treatment outlines, clinical case studies, a topic-relevant ethics case, detailed patient management problem, and a multiple-choice self-assessment examination.
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