PDF(Pubmed)
Abstract：
In recent years, significant progress has been made in 5q Spinal Muscular Atrophy therapeutics, emphasizing the importance of early diagnosis and intervention for better clinical outcomes. Characterized by spinal cord motor neuron degeneration, 5q-SMA leads to muscle weakness, swallowing difficulties, respiratory insufficiency, and skeletal deformities. Recognizing the pre-symptomatic phases supported by screening and confirmatory genetic tests is crucial for early diagnosis. This work addresses key considerations in implementing 5q-SMA screening within the Brazilian National Newborn Screening Program and explores Brazil\'s unique challenges and opportunities, including genetic tests, time-to-patient referral to specialized centers, program follow-up, and treatment algorithms. We aim to guide healthcare professionals and policymakers, facilitating global discussions, including Latin American countries, and knowledge-sharing on this critical subject to improve the care for newborns identified with 5q SMA.
摘要：
近年来,5q脊髓性肌萎缩疗法取得了重大进展，强调早期诊断和干预对改善临床结果的重要性。以脊髓运动神经元变性为特征，5q-SMA导致肌肉无力，吞咽困难,呼吸功能不全,和骨骼畸形。认识到由筛查和确证遗传测试支持的症状前阶段对于早期诊断至关重要。这项工作解决了在巴西国家新生儿筛查计划中实施5q-SMA筛查的关键考虑因素，并探索了巴西独特的挑战和机遇。包括基因测试,患者转诊到专业中心的时间，项目跟进，和治疗算法。我们的目标是指导医疗保健专业人员和政策制定者，促进全球讨论，包括拉丁美洲国家，以及关于这一关键问题的知识共享，以改善对5qSMA确定的新生儿的护理。
