Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute (VHIR), Barcelona, Spain.
Early Hum Dev. 2019 Nov;138:104851. doi: 10.1016/j.earlhumdev.2019.104851. Epub 2019 Oct 8.
Severe spinal muscular atrophy is an autosomal recessive motor neuron disorder characterized by rapidly progressive hypotonia and weakness with respiratory complications and fatal outcome. It is caused by absence or pathogenic variants in the SMN1 gene. Knowledge and advances of the genetics of the disease allowed the development of tailored therapies that has changed clinical trajectories with evolving phenotypes. Several clinical investigations demonstrate that early diagnosis and intervention are essential for improved response to treatment and better prognosis. Therapeutic interventions that are effective at pre-symptomatic or early stages of the disease creates the need for awareness, expedite diagnosis and consideration of newborn screening programs.
严重脊髓性肌萎缩症是一种常染色体隐性运动神经元疾病，其特征是迅速进展的低张力和无力伴呼吸并发症和致命结局。它是由 SMN1 基因的缺失或致病性变异引起的。对疾病遗传学的认识和进展使得能够开发针对特定疾病的治疗方法，这些治疗方法改变了具有不同表型的临床轨迹。多项临床研究表明，早期诊断和干预对于提高治疗反应和改善预后至关重要。在疾病的前症状或早期阶段有效的治疗干预措施需要提高认识、加快诊断并考虑新生儿筛查计划。
