一个正常神经检查和EMG患者的丹特罗林反应性肌肉硬:一个病例报告
Adam S Deardorff1,2, Matthew J Burford3, Mark M Rich1
1Department of Neuroscience, Cell Biology, and Physiology, Wright State University Boonshoft School of Medicine, Dayton, Ohio, USA.
Case reports in neurological medicine
|December 8, 2025
概括
这一案例研究表明,肌肉紧张的部分患者可能会从丹特罗治疗中受益. 这项研究强调了一名患有罕见CAPN3变异的医生,他经历了dantrolene的功能增长.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 药理学 药理学是指药理学的学科.
背景情况:
- 肌肉硬和紧张是常见的,但研究不足的疾病.
- 丹特罗通常用于上部运动神经元损伤或遗传性肌肉疾病引起的肌肉.
- 它在没有明确诊断或负效应的患者的使用是有限的.
研究的目的:
- 为了研究丹特罗伦在患有无法解释的肌肉刚性的患者中可能带来的益处.
- 探索遗传变异在肌肉紧张和治疗反应中的作用.
主要方法:
- 一个62岁的神经肌肉医生的病例报告,呈现出偶发性肌肉刚性.
- 下一代测序用于识别遗传变异.
- 用dantrolene治疗和功能收益的评估.
主要成果:
- 鉴定出一种异构致病性CAPN3变体 (c.2393C>A),被归类为可能与LGMD R1.1有关.
- 患者经历了显著的功能改善与dantrolene.
- 在试图停止药物治疗时,功能性收益会丧失.
结论:
- 这一案例表明,dantrolene可能对肌肉紧张的特定亚群患者有益.
- 需要进一步的研究来确定哪些患者可以从dantrolene治疗肌肉刚性中受益.
- 遗传因素,如CAPN3变异,可能会影响肌肉紧张的治疗反应.
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