High-resolution magnetic resonance imaging (MRI) scans of the facial nerve could provide a non-invasive and accurate way of detecting motor neuron impairments and aid doctors in making a diagnosis of spinal and bulbar muscular atrophy (SBMA), a small study suggests. The study, “The facial nerve atrophy with…
A single injection of Zolgensma into the spinal canal (intrathecal) can provide a clinically meaningful response in motor function gains among young children, 2 to 5 years old, who have spinal muscular atrophy (SMA) type 2, recent trial data show. Half of these older patients…
SRK-015, an experimental treatment for spinal muscular atrophy (SMA), continues to produce promising results in preclinical studies and in a Phase 1 trial of healthy volunteers, its developer, Scholar Rock, has announced. “We are excited for the potential role of SRK-015 as the first muscle-directed therapy…
Swallowing and speech problems are common in both children and adults with spinal muscular atrophy (SMA), and evident across disease types, a study reports. The most common bulbar complaints irrespective of SMA type are difficulties in biting, fatigue while chewing, choking, and a weak speaking voice. (Bulbar refers to…
An alternative form of intrathecal (via the spinal canal) injection, called a transforaminal puncture, is a safe and effective way of delivering Spinraza (nusinersen) to spinal muscular atrophy patients whose scoliosis makes standard spinal injections difficult, according to real-world data from the Phoenix Children’s Hospital. The study, “The Complex…
The Wisconsin State Laboratory of Hygiene is using Quantabio‘s technology to improve newborn screening of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID). The laboratory is developing a faster, easier and cost-effective way to simultaneously screen for both conditions. The test also can be used to…
Need for ventilation support is common among children with spinal muscular atrophy (SMA), and those who are older and with more abnormal breathing seem to be at greater risk, an Australian study suggests. Researchers have now defined a range of values for breathing function that may tell which…
The lifetime probability of having a scoliosis surgery is high — around 80% — for young people with SMA type 1c and type 2, a Dutch study shows. It also was high, at 71%, for those with SMA type 3 who lost the ability to walk…
A new RNA therapy delivered by a safe adeno-associated viral (AAV) vector, like other gene therapies, may be a way to treat spinal muscular atrophy (SMA), a mouse study shows. The therapy, called ExspeU1, showed the ability to raise the levels of survival motor neuron (SMN) protein in multiple…
Young children with spinal muscular atrophy (SMA) types 2 and 3 are at risk of severe bone fragility and can carry fractures that go unnoticed, a study found. The results, “Evolution of bone mineral density, bone metabolism and…
