Gene

Neuroscience

Spinal muscular atrophy

Biology

Weakness

Surgery

Muscle atrophy

Motor neuron

Neuromuscular disease

Genetics

Pediatrics

Bioinformatics

Anatomy

Mathematics

Atrophy

Muscle weakness

Internal medicine

Combinatorics

Medicine

Physical medicine and rehabilitation

Disease

SMA*

SMN1

Phenotype

Pathology

Journal of Neuromuscular Diseases

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 spectrum of disease severity ranges from early onset with respiratory failure during the first months of life to a mild, adult-onset type with slow rate of progression.Over the past decade, new treatment options such as splicing modulation of SMN2 and SMN1 gene replacement by gene therapy have been developed.First drugs have been approved for treatment of patients with SMA and if initiated early they can significantly modify the natural course of the disease.As a consequence, newborn screening for SMA is explored and implemented in an increasing number of countries.However, available evidence for these new treatments is often limited to a small spectrum of patients concerning age and disease stage.In this review we provide an overview of available and emerging therapies for spinal muscular atrophy and we discuss new phenotypes and associated challenges in clinical care.Collection of real-world data with standardized outcome measures will be essential to improve both the understanding of treatment effects in patients of all SMA subtypes and the basis for clinical decision-making in SMA.

Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care