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Children with spinal muscular atrophy (SMA) type 1 may be at an increased risk of developing kidney stones, suggesting the condition may be more common than previously thought, according to a small study in Turkey. It’s possible that nephrolithiasis — the medical term for kidney stones — has been…
A newer assessment method known as dEMB, for decomposition electromyography — which uses artificial intelligence (AI) tools to measure nerve and muscle function — strongly correlated with measures of physical function and was able to distinguish people with spinal muscular atrophy (SMA) who were able to walk from those…
Children with spinal muscular atrophy (SMA) generally have poor bone health, including low bone mineral density and reduced bone formation and remodeling, a study indicates. The effect on bone health is more pronounced in children with worse motor function, but as treatment with Spinraza (nusinersen) improved motor function…
Certain RNA molecules may be used as biomarkers to assess response to treatment with Spinraza (nusinersen) in people with spinal muscular atrophy (SMA), according to a recent study. These RNA (which stands for ribonucleic acid) molecules are found in the cerebrospinal fluid (CSF), the liquid surrounding the…
During the past few weeks, my patient with spinal muscular atrophy (SMA), Michael, has been adjusting to a new wheelchair. While he’s been in his new chair, he’s had discomfort along his right hip. Due to this increase in discomfort, we have been transferring him each week out…
How spinal muscular atrophy (SMA) manifests among people who carry four copies of the SMN2 gene varies, ranging from type 2 to type 4, with functional abilities showing a tendency to decline with age, a study in Italy finds. Understanding how the disease progresses over time and what…
About a third of adults with spinal muscular atrophy (SMA) show signs of poor, and abnormal, lung function, according to new analyses that found breathing problems were more likely in patients with severe disease — including those with type 2 SMA and those without an ability to walk. Lower…
People with spinal muscular atrophy (SMA) may experience bouts of breathlessness during sleep that can look at first glance like obstructive sleep apnea (OSA), but is not associated with a blockage of the airways that defines the sleep disorder, a case study highlights. Distinguishing between true sleep apnea and…
Measuring the electrical activity of a pair of nerves that control arm movement, called the median nerves, could help assess how people with spinal muscular atrophy (SMA) respond to Evrysdi (risdiplam). That’s according to “Evaluation of risdiplam efficacy in 5q spinal muscular atrophy: A systematic…
Disease-modifying therapies (DMTs) may slow the progression of an abnormal curvature of the spine in people with spinal muscular atrophy (SMA) type 2, a study reported. For those patients treated early, especially ones with no or minimal scoliosis, these findings were particularly significant, according to “Early treatment of…
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