A girl with spinal muscular atrophy (SMA) undergoing surgery to correct scoliosis, an abnormal sideways curvature of the spine, experienced a severe drop in blood pressure and oxygen levels due to the position of the surgical table, according to a case study. The tilt of the table that…
A harness system designed for children with movement difficulties, the Portable Mobility Aid for Children (PUMA) improved or stabilized motor function among young patients treated for spinal muscular atrophy (SMA) in a small study. More frequent at-home use of the system, whose harness supports a child’s weight,…
In adults with spinal muscular atrophy (SMA), changes in the bloodstream in the levels of a protein called LARGE1 matched treatment responses to Spinraza (nusinersen), a study suggested. Further, LARGE1 levels in the cerebrospinal fluid (CSF) — the liquid that surrounds the brain and spinal cord — were also…
Combining a low dose of risdiplam, the active ingredient in Evrysdi, with a therapy like Spinraza (nusinersen) boosted SMN protein production beyond what the individual treatments do in cells from spinal muscular atrophy (SMA) patients, a study shows. The low-dose combination demonstrated synergistic benefits while minimizing the…
Children with spinal muscular atrophy (SMA) can still experience swallowing difficulties despite early treatment with disease-modifying therapies, a small study shows. Swallowing was either incomplete, with liquid remaining in the mouth and/or esophagus, and/or unsafe due to aspiration (the inhalation of liquid into the lungs), in all of the…
In a small real-world study that tracked adults with spinal muscular atrophy (SMA) treated with Evrysdi (risdiplam) for more than 18 months, most patients saw their motor function remain stable or even improve. Nearly all of the study’s participants reported being generally satisfied with the approved SMA medication…
A previously unknown breathing problem — called pseudo-obstructive sleep-disordered breathing — has been discovered among people with spinal muscular atrophy (SMA) type 2, a study reveals. This unusual breathing pattern during sleep is caused by an imbalance between the SMA-related weakness in the chest muscles and the relatively unaffected…
A team of scientists in Iowa have created a super minigene  — a small gene fragment used as a tool to study genetic manipulation — that recapitulates essential features of the natural SMN1 and SMN2 genes linked to spinal muscular atrophy (SMA) and its severity. One of the most…
Despite concerns about long-term efficacy and safety, gene therapy was the first choice treatment for most parents of children with spinal muscular atrophy (SMA), whether diagnosed via newborn genetic screening or symptoms, according to a new survey study. However, the amount and type of information parents received upon their…
The start of a newborn screening (NBS) program for spinal muscular atrophy (SMA), allowing early treatment for infants found to have the disease, added to healthy years of life for patients in Belgium, according to a real-world analysis of its cost-effectiveness. “Spinal muscular atrophy newborn screening coupled with early…
