Targeting a stress-activated signaling pathway may offer a new way to treat spinal muscular atrophy (SMA), either on its own or in combination with existing therapies. Researchers found that blocking the c-Jun N-terminal kinase (JNK) pathway with medications significantly reduced disease severity and extended survival in a mouse model…
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The antipsychotic medication haloperidol may help treat spinal muscular atrophy (SMA) by increasing SMN protein levels and enhancing protective effects in nerve cells, a study found. Haloperidol boosted nerve cell survival, reduced neuroinflammation, and improved motor function in mice and in patient-derived cells, supporting its potential as a complementary…
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.
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…
