童年脊柱肌肉缩 儿童脊柱肌肉缩
David S Younger1, Jerry R Mendell2
1Department of Clinical Medicine and Neuroscience, CUNY School of Medicine, New York, NY, United States; Department of Medicine, Section of Internal Medicine and Neurology, White Plains Hospital, White Plains, NY, United States.
Handbook of clinical neurology
|August 24, 2023
概括
脊柱肌缩 (SMA) 是一种影响运动神经元的遗传疾病. 新的基因疗法和新生儿查提供了希望,但对于不同患者群体需要更多证据.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 脊柱肌缩 (SMA) 是一种严重的遗传神经肌肉疾病,由SMN1基因突变引起.
- 它导致运动神经元的逐渐退化,导致肌肉衰弱和缩.
- 这种情况会影响运动技能,反射以及呼吸和腹筋肌肉.
结论:
- 对于新的SMA治疗方法的现有证据是有限的,特别是在多样化的患者人口统计学方面.
- 进一步的研究是必不可少的,以便为所有SMA患者制定全面的治疗指南.
- 扩大新生儿查计划将促进早期检测和治疗启动.
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