Author Archives: Steve Bryson PhD

Three men with late-onset spinal muscular atrophy (SMA) undergoing treatment with the approved therapy Evrysdi (risdiplam) were able to conceive with their partners, a case series reported. None of the pregnancies were planned, and…

A year of disease-modifying therapies (DMTs) improved motor function, particularly fine motor skills, in people with spinal muscular atrophy (SMA) who could sit, but not walk due to disease progression before they had…

Powered, ride-on toy cars to help children with spinal muscular atrophy (SMA) type 1 be more mobile must be adapted for easy access and match a child’s motor abilities, according to parents who took…

Adults with spinal muscular atrophy (SMA) recommend individually tailored patient-reported outcome measures, or PROMs, to accurately gauge their lived experience, with a focus that goes beyond assessments of physical function to incorporate mental health, sexual function, sleep, and fatigue.

Profound deficits in mechanisms essential for swallowing are common among untreated infants with spinal muscular atrophy (SMA) type 1, according to a natural history study. While nearly all the babies could initiate the swallowing process, problems in…

A 33-year-old woman with spinal muscular atrophy (SMA) type 3 became pregnant while on Spinraza (nusinersen) treatment, and subsequently gave birth to a healthy child, according to a case report. The case “helps to elucidate…

Throughout 2024, SMA News Today brought our readers daily coverage of the latest clinical research and scientific breakthroughs related to spinal muscular atrophy (SMA). Here are the top 10 most-read stories we published last year, each with a brief…

Nearly 4 of every 5 infants with spinal muscular atrophy (SMA) type 1 born in Italy during the era of disease-modifying therapies (DMTs) are still alive, illustrating that such treatment has “radically changed the…

Researchers reported a unique mutation that supported an 8-year-old girl’s diagnosis of spinal muscle atrophy with lower extremity predominance (SMA-LED). The mutation, mapped to the BICD2 gene, resulted in a severe form of SMA-LED, type 2B, that emerged…

Variations in more than a dozen genes related to inflammation, neurodevelopment, and oxidative stress associate with the severity of spinal muscular atrophy (SMA) and disease type, as well as person’s age at onset…