在患有线粒体疾病的患者中,发病症和消症
R E M Kuin1, J T Groothuis2, P Buit3
1Radboud University Nijmegen, MA Speech-Language Pathology, Nijmegen, the Netherlands.
Molecular genetics and metabolism
|June 6, 2024
概括
发病症和消化不良影响了大约三分之一的线粒体疾病 (MD) 患者. 早期识别和语音治疗转诊对于改善这些患者的社会参与和福祉至关重要.
科学领域:
- 神经学 神经学
- 遗传学 遗传学是一种遗传学.
- 语音和语言病理学 语言病理学
背景情况:
- 线粒体疾病 (MD) 缺乏有关言语和吞障碍的全面数据.
- 了解MD中的性关节障碍和性消化障碍对于早期检测,疾病监测和有效治疗至关重要.
- 这项研究解决了有关MD患者这些沟通和吞障碍的信息稀缺问题.
研究的目的:
- 为了调查成年人遗传确认MD的发病率和发病率和发病率的严重程度.
- 探索这些障碍与临床表型之间的关系,以及疾病的整体严重程度.
- 为未来的自然史研究和MD的临床试验确定可靠的结果措施.
主要方法:
- 一项对224名经遗传确认的MD的成年患者进行了回顾性横截面研究.
- 使用标准化测试评估肌痛性关节障碍和消化障碍,包括拉德布德肌痛性关节障碍评估,吞速度,TOMASS和6MMT.
- 疾病的严重程度是使用纽卡斯尔线粒体疾病成年人尺度 (NMDAS) 量化.
主要成果:
- 在被研究的MD人群中,发动性关节炎的患病率为33.8%,发动性关节障碍的患病率为35%.
- 与规范值相比,患者在吞速度,TOMASS和6MMT方面表现较差.
- 发现了严重的关联,在肌痛性关节炎的严重程度和疾病的严重程度之间,在肌痛性关节炎和临床表型之间.
结论:
- 大约三分之一的线粒体疾病患者患有脱节性关节炎和/或失足症.
- 这些情况显著影响社会参与和生活质量,需要临床治疗.
- 语音和吞速度,TOMASS和6MMT被推作为MD患者临床相关的评估工具.
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