Author Archives: Marisa Wexler MS

Newborn screening for spinal muscular atrophy (SMA), coupled with early access to disease-modifying therapies, can improve the likelihood that children with the disease will be able to walk, a new study suggests. Also, fewer patients in the newborn screening group tended to require ventilatory or feeding…

Treatment with the muscle strengthener pyridostigmine may reduce patient-reported fatigue among people with spinal muscular atrophy (SMA), results from a small clinical trial suggest. Still, the treatment failed to ease motor fatigue and improve motor function compared with a placebo — which were the main goals of…

The team at SMA News Today brought you daily coverage of the latest developments in treatment and advancements in research related to spinal muscular atrophy (SMA) in 2022. We look forward to continuing to serve the SMA community in the new year. Here we’ve compiled a list…

A man in Brazil was found to have an exceptionally rare form of spinal muscular atrophy (SMA) — called SMA with lower extremity predominance, or SMA-LED — caused by a mutation in the TBK1 gene, as described in a new case report. Mutations in the TBK1 gene…

A technique called bioelectrical impedance analysis (BIA) can be used to measure body composition in people with type 2 or 3 spinal muscular atrophy (SMA), a new study reports. The study, “A comparative analysis of body composition assessment by BIA and DXA in children with…

There are more than 1,200 people with spinal muscular atrophy (SMA) living in Italy, and the vast majority are on disease-modifying treatment, according to a new study. SMA types 2 and 3 are the most common forms of the disease in the country, but the…

People with spinal muscular atrophy (SMA) types 2 or 3 who start treatment with Spinraza (nusinersen) and show less muscle damage on MRI scans are more likely to see motor function improvements, a new study reports. The finding “underscores the importance of early diagnosis and treatment to…

Without disease-modifying treatment (DMT), spinal muscular atrophy (SMA) carries high mortality rates and steep healthcare costs, a study in Hong Kong reported. Not surprisingly, the greatest loss of life and highest costs were observed in children with SMA type 1, one of this disease’s most severe forms…

A new system that contains a gene-modulating therapy attached to an antibody that enables crossing into the nervous system improved survival outcomes in a mouse model of severe spinal muscular atrophy (SMA), a new study reports. The study, “Antibody-oligonucleotide conjugate achieves central nervous system delivery…

Children with spinal muscular atrophy (SMA) who have lower levels of an inflammatory protein called interleukin-8 (IL-8) in the fluid surrounding the brain and spinal cord tend to respond better to treatment with Spinraza (nusinersen), a new study suggests. The findings indicate that IL-8 is a better predictor…