Center for Advanced Studies and Technology (CAST), "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Department of Neurosciences, Imaging and Clinical Sciences, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Int J Mol Sci. 2023 Oct 3;24(19):14873. doi: 10.3390/ijms241914873.
Spinal muscular atrophy (SMA) linked to 5q is a recessive motor neuron disease characterized by progressive and diffuse weakness and muscular atrophy. SMA is the most common neurodegenerative disease in childhood with an incidence of approximately 1 in 6000-10,000 live births, being long considered a leading cause of hereditary mortality in infancy, worldwide. The classification of SMA is based on the natural history of the disease, with a wide clinical spectrum of onset and severity. We are currently in a new therapeutic era, that, thanks to the widespread use of the newly approved disease-modifying therapies and the possibility of an early administration, should lead to a deep change in the clinical scenario and, thus, in the history of SMA. With the aim to achieve a new view of SMA, in this review we consider different aspects of this neuromuscular disease: the historical perspective, the clinical features, the diagnostic process, the psychological outcome, innovation in treatments and therapies, the possibility of an early identification of affected infants in the pre-symptomatic phase through newborn screening programs.
脊髓性肌萎缩症（SMA）与 5q 相关，是一种隐性运动神经元疾病，其特征是进行性和弥漫性无力和肌肉萎缩。SMA 是儿童中最常见的神经退行性疾病，发病率约为每 6000-10000 例活产儿中就有 1 例，长期以来被认为是全球婴儿遗传性死亡的主要原因。SMA 的分类基于疾病的自然史，具有广泛的发病和严重程度的临床谱。我们目前正处于一个新的治疗时代，由于新批准的疾病修正治疗的广泛应用以及早期给药的可能性，这应该会导致临床情况发生深刻变化，从而改变 SMA 的历史。为了实现对 SMA 的新认识，在本次综述中，我们考虑了这种神经肌肉疾病的不同方面：历史观点、临床特征、诊断过程、心理结果、治疗和疗法的创新、通过新生儿筛查计划在无症状期早期识别受影响婴儿的可能性。
