在患有杜申肌和贝克尔肌的患者中,尾肌瘦质量指数的变化
Brenda L Wong1, Suzanne Summer2, Paul S Horn3,4
1Department of Pediatrics and Neurology, DMD Program, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Journal of cachexia, sarcopenia and muscle
|October 25, 2023
概括
尾肌瘦质量 (ALM) 和ALM指数 (ALMI) 轨迹在贝克尔肌肉发育不良 (BMD) 和杜申肌肉发育不良 (DMD) 患者之间有所不同. 这些指数可以作为疾病严重程度和临床试验设计的有价值标记.
科学领域:
- 生物医学研究的研究.
- 遗传学 遗传学 是一个
- 肌肉骨系统疾病 肌肉骨系统疾病
背景情况:
- 杜琴肌肉发育不良 (DMD) 和贝克尔肌肉发育不良 (BMD) 是导致肌肉衰竭的遗传性疾病.
- 尾肌瘦质量 (ALM) 和ALM指数 (ALMI) 在DMD患者中随着年龄的增长而下降.
- 在BMD和中间的DMD表型中,ALM和ALMI轨迹尚不清楚.
研究的目的:
- 比较与年龄相关的ALM和ALMI轨迹在BMD,中间DMD,典型DMD和健康对照中.
- 在各种DMD基因型中调查ALM和ALMI的差异.
- 评估ALM和ALMI作为疾病严重程度的替代标记物的潜力.
主要方法:
- 从499名DMD患者和46名BMD患者 (5-23岁) 的ALM和ALMI数据的回顾性审查.
- 患者按年龄 (疾病阶段) 和DMD基因型 (前列1-30,31-44,45-62,63-79) 分组.
- 与健康对照组进行比较,并对没有功能性移动性缺陷的骨髓损伤患者进行分析.
主要成果:
- BMD患者的ALM和ALMI与健康对照进行了并行研究,直到青春期,与DMD患者不同.
- 骨髓疾病患者的ALMI保持在±2 SD范围内,而DMD患者在12岁左右下降到-2 SD以下.
- 中级DMD患者在14岁后显示ALMI下降,典型的DMD在10岁后显示;异构63-79突变与更大的ALMI下降相关.
结论:
- 与年龄相关的ALMI变化在BMD和中间DMD不同于典型的DMD,反映出不同的临床表型.
- 作为BMD和DMD严重程度的潜在代用标记物,ALM和ALMI需要进一步研究.
- 这些指数可以为肌肉发育不良的临床护理决策和临床试验设计提供信息.
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