Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the
survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births …

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 …

Background Nusinersen is a 2′-O-methoxyethyl phosphorothioate-modified antisense drug
being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to …

Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause
of infant mortality, typically resulting in death preceding age 2. Clinical trials in this …

Objectives: Prospective cohort study to characterize the clinical features and course of spinal
muscular atrophy type I (SMA-I). Methods: Patients were enrolled at 3 study sites and …

Adeno-associated virus (AAV) has emerged as a pivotal delivery tool in clinical gene
therapy owing to its minimal pathogenicity and ability to establish long-term gene expression …

Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor
neuron loss. In this review we provide an update regarding the most common form of SMA …

Background: Spinal muscular atrophy (SMA) is an autosomal recessive disease
characterized by the degeneration of alpha motor neurons in the spinal cord, leading to …

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 …

INTRODUCTION Clinical context and need for a guideline Neuromuscular diseases as a
group are relatively common with a prevalence of about 1 in 3000. The majority of these …