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Treatment with Spinraza (nusinersen) led to improvements in motor function for nearly all children with spinal muscular atrophy (SMA) who received the therapy at a center in China, and among children who didn’t experience improvements, motor function was generally stable with Spinraza. The findings were detailed in a…
Scientists in Spain have developed an upper limb exoskeleton device and accompanying video game-based program to boost the effects of physical therapy in children with motor disabilities such as those seen in spinal muscular atrophy (SMA). The device, created with a 3D printer, was designed to be more affordable…
A team of U.S. researchers has identified cellular mechanisms that might lead to the loss of nerve cell projections in spinal and bulbar muscular atrophy (SBMA), a rare adult-onset form of the genetic disease. That’s according to a new preclinical study showing that abnormal protein clumps in the cell’s…
People with spinal muscular atrophy (SMA) who are treated with Spinraza (nusinersen) are less likely to require hospitalization or emergency medical care, and hospitalization-related costs correspondingly tend to decrease after starting on the therapy, a U.S. database study reports. The study, “Evaluation of inpatient and…
DNA contamination from sample processing remains a major problem in spinal muscular atrophy (SMA) newborn screening, a study reported. Researchers proposed analytic cut-off values to clearly separate samples testing positive for SMA from negative samples. Data also showed that adding a freezing step before DNA extraction led to…
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…
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…
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…
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…
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,…
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