Background: In spinal muscular atrophy, clinical trial results indicated that disease-modifying
treatments are highly effective when given prior to symptom onset, which has prompted …

Introduction Over the last decade, the treatment of spinal muscular atrophy (SMA) has
become a paradigm of the importance of early and accurate diagnosis and prompt …

Background: Spinal muscular atrophy (SMA) is caused by bi-allelic, recessive mutations of
the survival motor neuron 1 (SMN1) gene and reduced expression levels of the survival …

In recent years, significant progress has been made in 5q Spinal Muscular Atrophy
therapeutics, emphasizing the importance of early diagnosis and intervention for better …

Spinal muscular atrophy (SMA) is an autosomal recessive disease leading to progressive
muscle weakness and atrophy, in severe cases also affecting the bulbar and respiratory …

Objective This study aimed to observe the neurophysiological characteristics of type II and
type III 5q spinal muscular atrophy (SMA) patients and the changes in peripheral motor …

Spinal muscular atrophy (SMA), identified over a century ago, is characterized by severe
muscle wasting and early mortality. Despite its rarity, the high carrier frequency of the …

Objectives Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by
homozygous deletion and compound heterozygous mutations in survival motor neuron 1 …

Background Spinal muscular atrophy (SMA) is a group of motor neuron diseases. In 95% of
SMA patients, the telomeric copy of the SMN gene (SMN1) is homozygously deleted. Due to …

Background: In spinal muscular atrophy, clinical trial results indicated that diseasemodifying
treatments are highly effective when given prior to symptom onset, which has prompted …