Author Archives: Lindsey Shapiro PhD

Babies born prematurely were diagnosed with spinal muscular atrophy (SMA) through newborn screening programs (NBS) in Germany and, in most cases, started on treatment before disease symptoms emerged, a retrospective study reports. Doctors, however, waited to initiate…

Brain abnormalities visible on MRI scans were seven times more likely in people with spinal muscular atrophy (SMA) than in those without the disease, a small study found. Patients with indicators of more severe…

Untreated patients with spinal muscular atrophy (SMA) type 2 showed more changes in their ability to perform upper limb activities over a year than those with SMA type 3, an analysis suggests. Whether patients gained…

Treatment with Spinraza (nusinersen) generally stabilized or improved motor function for older patients with spinal muscular atrophy (SMA), according to a review and meta-analysis of previously published observational studies. The new analysis, which spanned a treatment period of up to two years, involved adults and adolescents with…

Treatment with an investigational high-dose regimen of Spinraza (nusinersen) was well tolerated and significantly improved motor function in infants with spinal muscular atrophy (SMA) relative to untreated patients, according to top-line data from the pivotal portion of a Phase 2/3 clinical trial. Results from the DEVOTE…

Children with spinal muscular atrophy (SMA) exhibit widespread metabolic disruption — changes that affect the body’s metabolism — relative to children without SMA, according to a new Chinese study. Metabolic analyses of the cerebrospinal fluid (CSF), the fluid surrounding the brain and spinal cord, indicated metabolic disruption across…

A combination genetic therapy approach designed to restore more normal activity of the SMN1 gene improved motor function and prolonged survival in a spinal muscular atrophy (SMA) mouse model. Called Gene-DUET, it involves supplementing the body with additional healthy SMN1 genetic material, an approach similar to the approved gene therapy…

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…

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…