在老年患者中对利博弗拉敏感的脂质储存肌病
Menachem Sadeh1, Amir Dory2, Dorit Lev3
1Edith Wolfson Medical Center, Department of Neurology, Holon, Faculty of Medicine, Tel Aviv University, Israel.
Journal of the neurological sciences
|December 3, 2023
概括
经历渐进的肌肉衰弱的老年患者可能患有对利博弗拉敏感的脂质储存肌病. 肌肉活检和基因检测对于诊断老年人这种可治疗的疾病至关重要.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 脂质储存肌肉病是罕见的,特别是在老年人中.
- riboflavin (维生素B2) 的反应在一些遗传代谢性肌肉病变中得到了记录.
研究的目的:
- 描述三名患有利博黄素反应性脂质储存肌病症的老年患者.
- 突出肌肉活检在识别老年人可治疗肌肉病的诊断实用性.
主要方法:
- 三名老年患者 (67-71岁) 的临床病例系列,呈现出亚急性近端肌肉衰弱.
- 肌肉活检分析显示脂质真空主要在1型肌肉纤维中.
- 在受影响患者中对ETFDH基因的遗传分析.
主要成果:
- 所有患者都表现出渐进的软弱,包括部伸展器和近端四肢,导致运动障碍.
- 肌肉活检证实了肌肉纤维内脂肪的积累.
- 遗传分析显示,两名患者的ETFDH基因存在变异,其中一个可能是致病性.
- 这三名患者在接受里博弗拉和卡尼丁治疗后,都显示出显著的力量恢复.
结论:
- 在老年患者中,可能会发生对利博弗拉敏感的脂质储存肌病,呈现为渐进的近位弱点.
- 肌肉活检对于诊断脂质储存肌肉缺陷症至关重要,当原因最初不清楚时.
- 在受影响的老年人中,早期诊断和利博弗拉治疗可以使肌肉功能大幅恢复.
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