A review study found that the neuromuscular junction (NMJ), the site where nerves connect to the muscles they control, fails to mature normally soon after birth in people with spinal muscular atrophy (SMA), leaving it structurally underdeveloped and functionally vulnerable before the loss of nerve cells that facilitate movement.
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Treatment with Evrysdi (risdiplam) improved motor function and quality of life in children and adults with spinal muscular atrophy (SMA), a real-world study in Hong Kong shows. The findings, from 34 patients followed for up to three years, showed clinically meaningful gains in motor and upper-limb function, particularly in…
Far-field potentials (FFPs), electrical signals recorded with surface electrodes after nerve stimulation, may help track disease progression in people with spinal muscular atrophy (SMA), a study suggests. The strength of these signals, or FFP amplitude, was significantly lower in people with SMA than in healthy participants, but not significantly different…
Sleep issues, common in people with spinal muscular atrophy (SMA), may be driven not only by nighttime breathing problems linked to weak respiratory muscles but also by changes in how the brain regulates sleep, a review of studies suggests. “Sleep disturbances in SMA are multifactorial, reflecting both respiratory muscle…
Whole-body quantitative MRI, or qMRI, can track long-term subtle muscle changes throughout the body among adults with spinal muscular atrophy (SMA), despite treatment and clinical stability, a new study reported. In fact, qMRI was seen to work better than clinical testing over time in detecting muscle measures of disease…
Surgery to implant magnetically controlled growing rods (MCGRs) is a safe and effective option for children with spinal muscular atrophy (SMA) type 1 and scoliosis, according to a study. “MCGR represents a viable and effective surgical strategy for managing [scoliosis] in the medically complex [SMA type 1] population,” the…
A home-based respiratory physiotherapy program focused on breathing exercises and airway clearance techniques can significantly improve quality of life for young people with spinal muscular atrophy (SMA) who are receiving treatment with Spinraza (nusinersen), a small study suggests. Data showed that lung function among the study’s participants remained…
Abe Homer’s entry into healthcare gaming technology began at Children’s Hospital Colorado, where he met a young man with advanced spinal muscular atrophy (SMA). “He was a young man in his mid-20s, who was in a pretty advanced stage of SMA at that point, where he could only…
Scholar Rock has resubmitted its application seeking approval in the U.S. of its muscle-strengthening agent apitegromab — rejected last year due to manufacturing issues — for the treatment of children and adults with spinal muscular atrophy (SMA). The drug developer said it expects the U.S. Food and…
The U.S. Food and Drug Administration (FDA) has approved a high-dose regimen of Spinraza (nusinersen) — one that allows patients to receive consistently higher doses of the therapy after a shorter initial treatment loading phase — for spinal muscular atrophy (SMA). The new dosing regimen is authorized for use…
