成年人的渐进性软弱:脂质储存肌痛,疑似与塞特拉林相关的病因
Jaclyn Feely1, Natalie Saliba2, NdukeAbasi Nze3
1Medicine, Alabama College of Osteopathic Medicine, Dothan, USA.
Cureus
|January 20, 2026
概括
脂质储存肌肉病 (LSMs) 是一种罕见的代谢障碍,导致逐渐减弱. 早期诊断需要考虑LSM,特别是当标准测试没有确定性时,就像在 riboflavin 缺乏病例中看到的那样.
科学领域:
- 神经学 神经学
- 代谢障碍 代谢障碍 代谢障碍
- 肌肉疾病 肌肉疾病
背景情况:
- 脂质储存肌肉病 (LSMs) 是肌肉衰弱的不常见原因.
- 在最初的诊断工作中,这些情况往往被忽视.
- 渐进的近位软弱可能是一个呈现症状.
研究的目的:
- 为了突出代谢性肌肉病变的诊断挑战.
- 由于潜在的 рибофлавин 载体缺乏症而导致的 LSM 的病例.
- 强调考虑小微企业在不明原因的弱点中的重要性.
主要方法:
- 一个51岁妇女的病例报告,患有渐进的近位弱点.
- 最初的调查包括EMG,脊柱成像和血清学.
- 肌肉活检显示了脂质积累;进行了基因检测.
主要成果:
- 传统的诊断研究没有揭示.
- 肌肉活检证实了脂质的积累.
- 基因测试表明多重乙-CoA脱酶缺乏症 (MADD) 或利博胺转运器缺陷.
结论:
- 代谢性肌肉病变应考虑在不明原因的渐进性衰弱.
- 开始服用 riboflavin 补充剂.
- 长期使用SSRI被认为是线粒体功能障碍的潜在因素.
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