Pediatric Neurology Unit, Catholic University, Rome, Italy.
Lancet Neurol. 2012 May;11(5):443-52. doi: 10.1016/S1474-4422(12)70061-3.
Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations of the survival of motor neuron 1 gene SMN1. The severity of spinal muscular atrophy is highly variable and no cure is available at present. Consensus has been reached on several aspects of care, the availability of which can have a substantial effect on prognosis, but controversies remain. The development of standards of care for children with the disorder and the identification of promising treatment strategies have changed the natural history of spinal muscular atrophy, and the prospects are good for further improvements in function, quality of life, and survival. A long-term benefit for patients will be the development of effective interventions (such as antisense oligonucleotides), some of which are in clinical trials. The need to be prepared for clinical trials has been the impetus for a remarkable and unprecedented cooperation between clinicians, scientists, industry, government, and volunteer organisations on an international scale.
脊髓性肌萎缩症是一种常染色体隐性遗传病，其特征是脊髓运动神经元退化，由运动神经元存活 1 基因 SMN1 的突变引起。脊髓性肌萎缩症的严重程度差异很大，目前尚无治愈方法。在护理方面已经达成了一些共识，这些共识的可用性对预后有很大的影响，但仍存在争议。为患有这种疾病的儿童制定护理标准和确定有前途的治疗策略改变了脊髓性肌萎缩症的自然病史，在功能、生活质量和生存方面进一步改善的前景良好。对患者的长期益处将是开发有效的干预措施（如反义寡核苷酸），其中一些正在临床试验中。需要为临床试验做好准备，这是推动国际范围内临床医生、科学家、行业、政府和志愿组织之间开展显著和前所未有的合作的动力。
