Meyer Alayne P, Roggenbuck Jennifer, LoRusso Samantha, Kissel John, Smith Rachel M, Kline David, Arnold W David
Division of Human Genetics, The Ohio State University, Columbus, OH, United States.
Department of Neurology, The Ohio State University, Columbus, OH, United States.
Front Neurol. 2020 Jun 26;11:593. doi: 10.3389/fneur.2020.00593. eCollection 2020.
Inherited myotonic disorders are genetically heterogeneous and associated with overlapping clinical features of muscle stiffness, weakness, and pain. Data on genotype-phenotype correlations are limited. In this study, clinical features and treatment patterns in genetically characterized myotonic disorders were compared. A retrospective chart review was completed in patients with genetic variants in , and to document clinical signs and symptoms, clinical testing, and antimyotonia medication use. A total of 142 patients (27 , 15 , 89 , and 11 ) were reviewed. The frequency of reported symptoms (stiffness, weakness, and pain) and electromyographic spontaneous activity were remarkably similar across genotypes. Most patients were not treated with antimyotonia agents, but those with non-dystrophic disorders were more likely to be on a treatment. Among the features reviewed, we did not identify clinical or electrophysiological differences to distinguish - and -related myotonia. Weakness and pain were more prevalent in non-dystrophic disorders than previously identified. In addition, our results suggest that medical treatments in myotonic disorders may be under-utilized.
遗传性肌强直障碍具有遗传异质性，与肌肉僵硬、无力和疼痛等重叠的临床特征相关。基因型-表型相关性的数据有限。在本研究中，对具有明确遗传特征的肌强直障碍的临床特征和治疗模式进行了比较。对携带、和基因变异的患者进行了回顾性病历审查，以记录临床体征和症状、临床检查以及抗肌强直药物的使用情况。共审查了142例患者（27例、15例、89例和11例）。各基因型报告症状（僵硬、无力和疼痛）的频率以及肌电图自发活动情况非常相似。大多数患者未接受抗肌强直药物治疗，但非营养不良性障碍患者更有可能接受治疗。在审查的特征中，我们未发现可区分与相关的肌强直的临床或电生理差异。无力和疼痛在非营养不良性障碍中比之前所认识的更为普遍。此外，我们的结果表明，肌强直障碍的药物治疗可能未得到充分利用。
