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 …

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

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 …

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

Purpose To evaluate the implementation of the first statewide newborn screening (NBS)
program for spinal muscular atrophy (SMA) in Australia. Processes that hinder and support …

Spinal muscular atrophy (SMA) encompasses a group of autosomal recessively inherited
degenerative neuromuscular disorders. They range in severity from neonatal onset with …

Objective To evaluate the safety and clinical efficacy of nusinersen in patients older than 7
months with spinal muscular atrophy type 1 (SMA1). Methods Patients with SMA1 were …

Abstract 5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the
leading symptom of a proximal muscle weakness. Three different drugs have been …