Elevated levels of the protein alpha-COP, involved in cellular transport and self-cleansing processes, extended survival in a mouse model of severe spinal muscular atrophy (SMA) without altering levels of the survival motor neuron (SMN) protein, according to a recent study. These results suggest this protein can modify SMA,…
Patients of all ages with spinal muscular atrophy (SMA) will now be able to be treated with Spinraza (nusinersen) in England, after the…
High-intensity training can improve fitness and may be performed safely by patients with spinal and bulbar muscular atrophy (SBMA), a small pilot study suggests. According to patients, high-intensity training (HIT) did not increase their muscle fatigue and was preferred to other workouts. Although more studies are needed to understand the long-term…
Adults and children with neuromuscular disorders — including those with spinal muscular atrophy (SMA) — are living longer, according to a 12-year population-based study in Ontario, Canada. The recent drop in mortality is likely due to the latest advances in the management of respiratory complications, newer technologies for lung hygiene and night…
Saudi Arabian doctors need to be more aware of consensus guidelines for managing patients with spinal muscular atrophy (SMA) and their role in the variability of care for these children, a study says. The study, “Effect of new modalities of treatment on physicians management plan for patients with spinal muscular…
Treatment with Spinraza (nusinersen) was able to resolve many severe and widespread skin lesions in a 7-month-old infant with spinal muscular atrophy (SMA) type 1, a case report shows. Although this is just…
The sense of fatigue perceived by patients with spinal muscular atrophy (SMA) does not correlate with their physical tendency to get tired, their motor function, or quality of life, a study reports. According to this…
LMI070 (branaplam), a candidate oral therapy under development by Novartis, is being tested in a Phase 1/2 clinical trial for infants with spinal muscular atrophy (SMA) type 1. A recent study describes how the compound was discovered from a large screen for SMN2…
A 3-D cell model derived from patients’ stem cells is able to mimic motor neurons from spinal muscular atrophy (SMA) patients and can become a better physiological tool to study disease mechanisms and screen therapy candidates, new research shows. The study,…
Patients with spinal muscular atrophy (SMA) are more susceptible to becoming tired during physical activity, which, in addition to muscle weakness, may contribute significantly to their decreased motor function, a study finds. The study, “A continuous repetitive task to detect fatigability in spinal muscular atrophy,”…
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