Combinatorics

Internal medicine

Spinal muscular atrophy

Disease

Weakness

Mathematics

Bioinformatics

Biology

Gene

Genetic enhancement

SMA*

Surgery

Physical therapy

Motor neuron

SMN1

Food and drug administration

Genetics

Medicine

Pharmacology

Physical medicine and rehabilitation

Journal of Clinical Medicine

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability. The disorder is caused by mutations in the survival motor neuron 1 (SMN1) gene and a consequent decrease in the SMN protein leading to lower motor neuron degeneration. Recently, Food and Drug Administration (FDA) and European Medical Agency (EMA) approved the antisense oligonucleotide nusinersen, the first SMA disease-modifying treatment and gene replacement therapy by onasemnogene abeparvovec. Encouraging results from phase II and III clinical trials have raised hope that other therapeutic options will enter soon in clinical practice. However, the availability of effective approaches has raised up ethical, medical and financial issues that are routinely faced by the SMA community. This review covers the available data and the new challenges of SMA therapeutic strategies.

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges