Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive,
neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor …

In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive
muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available …

Objective To investigate probabilities of survival and its surrogate, that is, mechanical
ventilation, in patients with spinal muscular atrophy (SMA). Methods We studied survival in a …

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes
degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor …

Background International reporting of epidemiological surveys of spinal muscular atrophy
(SMA) in Japan has been limited to Shikoku, despite the epidemiology of the disease in …

Objective This article estimates the disease burden of 5q-SMA in Colombia by using the
disability-adjusted life years (DALYs) metric. Methods Epidemiological data were obtained …

背景: 脊髓性肌萎缩症(SMA) 主要表现为进行性运动功能倒退, 近年来随着基因修复,
基因替代治疗药物的应用, 设计为RCT 的临床试验有悖伦理, 因此SMA 的自然病史作为治疗 …

Background: Rare diseases are an important population health issue and many promising
therapies have been developed in recent years. In light of novel genetic treatments expected …

Abstract Background Spinal Muscular Dystrophy (SMA) is one of the leading causes of
death in infants and young children from heritable diseases. Although no large‐scale …

Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by
homozygous mutations in the SMN1 gene. SMA has long been known to be the most …