Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by
deletion or mutation of SMN1. Four subtypes exist, characterized by different clinical …

Abstract Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in
SMN1 and results in the loss of motor neurons and progressive muscle weakness. The …

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases
with progressive weakness of skeletal and respiratory muscles, leading to significant …

Background Given the novelty of gene replacement therapy with onasemnogene
abeparvovec in spinal muscular atrophy, efficacy and safety data are limited, especially for …

Recent advances in the treatment of spinal muscular atrophy (SMA) have dramatically
altered prognosis. Rather than a rapidly lethal disease, SMA type 1, the most severe form …

Introduction: Spinal muscular atrophy (SMA) is one of the most common inherited
neuromuscular disorders. It causes progressive muscle weakness and results in significant …

Spinal muscular atrophy (SMA) is a recessive disorder caused by a mutation in the survival
motor neuron 1 gene (SMN 1); it affects 1 in 11 000 newborn infants. The most severe and …

Spinal muscular atrophy (SMA) used to be one of the most common genetic causes of infant
mortality. New disease modifying treatments have changed the disease trajectories and …

Background Major efforts have been made in the last decade to develop and improve
therapies for proximal spinal muscular atrophy (SMA). The introduction of …

Background Treatment with nusinersen has demonstrated significant and clinically
meaningful benefits in clinical trials in infants and children with spinal muscular atrophy …