Following treatment with gene therapy Zolgensma (onasemnogene abeparvovec-xioi), adding a second therapy, such as Spinraza (nusinersen) or Evrysdi (risdiplam), did not prevent widespread muscle disease progression in infants at risk of spinal muscular atrophy (SMA) type 1, a real-world study found. Although children treated with a…
News
Treatment with Spinraza (nusinersen) improved motor function in children, adolescents, and adults with spinal muscle atrophy (SMA) who were unable to walk without assistance, according to a four-year real-world analysis. Moreover, nine of the 12 patients who underwent continuous evaluations while on Spinraza over the four years achieved…
The case of a man with clinical signs of muscular dystrophy who was ultimately diagnosed with adult-onset spinal muscular atrophy (SMA) was described in a recent case report. Researchers hope the findings highlight that when signs of muscular dystrophy, such as enlarged muscles, are observed it does not…
Women with neuromuscular diseases in Denmark reported significant challenges in urinating outside of their own homes, leading to avoidance of urinating or drinking in public, according to a recent interview-based study. The findings emphasize a need for public health solutions to make it easier for women with disabilities, including those…
Many adults with spinal muscular atrophy (SMA) have metabolic syndrome, and those who do tend to report worse life quality and fatigue, according to a study from Germany. Nine of 36 SMA adults enrolled in the study — exactly one-quarter — met the diagnostic criteria for metabolic syndrome, or…
A woman with a long history of muscle weakness was found to have spinal muscular atrophy (SMA) in her late 40s, a diagnosis that was prompted by her unsteady walk and records that showed her parents were blood relatives, a case report indicates. “There are few cases reported of…
Survival outcomes in spinal muscular atrophy (SMA) are heavily influenced by age of onset, even among patients who are classified as having the same type of SMA, according to an analysis of more than three decades’ worth of data at a center in Thailand. In fact, data suggest…
Use of the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) was generally well tolerated and led to improvements in motor function for most children with spinal muscular atrophy (SMA) who were treated at centers across Brazil. “This is the first Brazilian cohort to demonstrate the benefits of [gene therapy] in…
Researchers have developed an artificial intelligence (AI)-based algorithm to help predict the presence of scoliosis in spinal muscular atrophy (SMA) patients based on clinical features routinely collected at the doctor’s office. “Our predictive model … could augment clinical decision-making in the future by offering quantified probabilities of scoliosis…
Chronic pain is common among people with spinal muscular atrophy (SMA) across all age groups, according to a Swiss study. Patients who had surgery to correct scoliosis, a sideways curvature of the spine, were most likely to have chronic pain, as were females and adolescents. “Awareness should be…
