晚期诊断杜恩肌肉衰竭仍然是一个现实吗?
Michele Michelin Beckerq1, Juliana Gurgel-Giannetti2, Alexandra Prufer de Queiroz Campos Araujo3
1Department of Pediatrics, Child Neurology Unit- Hospital de Clínicas de Porto Alegre, Brazil.
概括
在巴西,诊断杜申肌力发育不良 (DMD) 发生的时间比理想晚,症状在三岁左右被注意到,但诊断确认在七岁左右. 神经认知状况进一步延迟了诊断.
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:
- 杜氏肌肉发育不良 (DMD) 是一种严重的X链接的衰退性神经肌肉疾病.
- 早期诊断对于及时干预和管理DMD至关重要.
- 在全球范围内,包括巴西,诊断延迟是一个重大挑战.
研究的目的:
- 为了确定巴西杜申尼肌肉衰竭的诊断年龄.
- 确定影响DMD患者诊断延迟的因素.
主要方法:
- 在五个巴西神经肌肉中心和巴西罕见病国家网络 (RARAS) 进行了一项合作的历史队列研究.
- 分析了2019年1月至2024年3月期间被诊断患有DMD的173人数据.
- 记录了症状发作的年龄,疑似诊断和确诊的诊断.
主要成果:
- 怀疑DMD诊断的平均年龄为5.7岁,确认年龄为6.9岁.
- 父母第一次注意到症状的平均年龄约为3.0岁,经常跌倒和步行异常是常见的初始症状.
- 同时发生的神经认知疾病与怀疑 (1.12年) 和确认 (1.0年) 诊断的显著延迟有关.
结论:
- 尽管有所改善,但巴西的DMD诊断年龄仍然比最佳年龄晚,落后于高收入国家.
- 早期识别初始症状,如频繁跌倒和步行问题至关重要.
- 解决诊断延迟,特别是在患有神经认知相关疾病的儿童中,对于改善DMD的结果至关重要.
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