Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome 00168, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Neuromuscul Disord. 2021 Oct;31(10):998-1003. doi: 10.1016/j.nmd.2021.08.009.
The aim of this paper is to provide a short history of spinal muscular atrophy, from the first descriptions of the disease to the impact of the most recent therapeutical advances on the disease course. The paper provides an overview of how the field has progressed over the years after the availability of care recommendations and, more recently of the new therapies. The paper also highlights the new challenges related to the interpretation of the efficacy of the new therapies and how these are likely to affect several aspects such as the classification of spinal muscular atrophy. We will also discuss the need for further work to better define possible new phenotypes and new methods of assessments and how these should be reflected in the care recommendations. The results in presymptomatic patients will finally highlight the need for neonatal screening.
本文旨在简要回顾脊髓性肌萎缩症的历史，从该病的首次描述到最近治疗进展对病程的影响。本文概述了在提供治疗建议后，以及最近的新疗法问世后，该领域多年来的进展情况。本文还强调了与新疗法疗效解释相关的新挑战，以及这些挑战可能如何影响脊髓性肌萎缩症的分类等多个方面。我们还将讨论进一步研究的必要性，以更好地定义可能的新表型和新评估方法，以及如何在治疗建议中体现这些内容。在有症状前患者中的研究结果最终将突出新生儿筛查的必要性。
