Division of Child Neurology and Metabolic Medicine Center for Child and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany.
Department of Neurology University Hospital Heidelberg Heidelberg Germany.
Ann Clin Transl Neurol. 2018 Nov 13;6(1):197-205. doi: 10.1002/acn3.689. eCollection 2019 Jan.
In recent years, disease-modifying and life-prolonging therapies for spinal muscular atrophy (SMA) have been developed. However, patients are currently diagnosed with significant delay and therapies are often administered in advanced stages of motor neuron degeneration, showing limited effects. Methods to identify children in presymptomatic stages are currently evaluated in newborn screening programs. Yet, not all children develop symptoms shortly after birth raising the question whom to treat and when to initiate therapy. Finally, monitoring disease progression becomes essential to individualize management. Here, we review the literature on screening approaches, strategies to predict disease severity, and biomarkers to monitor therapy.
近年来，针对脊髓性肌萎缩症（SMA）的疾病修正和延长生命的疗法已经得到了发展。然而，目前患者的诊断存在明显延迟，并且治疗通常在运动神经元退化的晚期进行，效果有限。目前，在新生儿筛查计划中正在评估识别无症状阶段儿童的方法。然而，并非所有儿童在出生后不久都会出现症状，这就提出了治疗对象和开始治疗时间的问题。最后，监测疾病进展对于个体化管理至关重要。在这里，我们回顾了关于筛查方法、预测疾病严重程度的策略以及监测治疗的生物标志物的文献。
