Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …

Risdiplam is an oral, survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier
approved for the treatment of spinal muscular atrophy (SMA). SUNFISH (NCT02908685) …

Objectives This systematic review aimed to assess mid-and long-term (at least 12 months)
real-world study data from all types of spinal muscular atrophy (SMA) patients treated with …

Introduction Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the
treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study …

Loss or deletion of survival motor neuron 1 gene (SMN1) is causative for a severe and
devastating neuromuscular disease, Spinal Muscular Atrophy (SMA). SMN1 produces SMN …

Background and purpose Spinal muscular atrophy (SMA) is caused by reduced levels of
survival of motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene …

The natural history of spinal muscular atrophy has been radically changed by the advent of
improved standards of care and the availability of disease-modifying therapies. The aim of …

Risdiplam (Evrysdi®) is the first oral drug developed to treat spinal muscular atrophy (SMA)
and is approved in multiple countries worldwide. It is approved for the treatment of SMA in …

Background Spinal muscular atrophy (SMA) is a rare neuromuscular disorder leading to
early death in the majority of affected individuals without treatment. Recently, targeted …