Author Archives: Steve Bryson PhD

The use of long-term breathing help, or ventilation, has markedly increased among children with spinal muscular atrophy (SMA) type 1 and other conditions since 2008, according to a survey of ventilation centers in the U.K. This increase coincided with the expanded use of various types of non-invasive masks…

UNITY Screen, a noninvasive prenatal blood test, can provide an accurate personalized risk assessment for hereditary diseases such as spinal muscular atrophy (SMA) in fetuses, according to a recent study. Offered by BillionToOne in the U.S., the single-gene noninvasive prenatal test (sgNIPT) included in UNITY Screen…

The elevated production of the cell-death-related protein c-Fos was closely linked to the death of motor neurons in two mouse models of spinal muscular atrophy (SMA), a study showed. Motor neurons are the muscle-controlling nerve cells that are lost in people with SMA. Although c-Fos didn’t directly cause…

Severe scoliosis — an abnormal curvature of the spine — was significantly associated with older age and limited motor abilities in children with spinal muscular atrophy (SMA) type 2 who had not received disease-modifying therapies, a study showed. These findings establish characteristics of untreated scoliosis progression on SMA…

Disease subtype, low body fat content, and shallow breathing and low blood oxygen levels during sleep are risk factors for recurrent lung infections and lung failure among children with spinal muscular atrophy (SMA), a study concluded. The risk of these lung complications was about five times higher in…

Most people with spinal muscular atrophy (SMA) are unaware of their SMN2 copy number, and in a few cases, their type of SMA, according to a survey of Cure SMA members. Caregivers also may not know the number, the survey reported. Because an SMN2 copy number can…

Up to 4.5 years of Spinraza (nusinersen) treatment led to meaningful improvements in motor function in adolescents and adults with spinal muscular atrophy (SMA), according to a medical records analysis. “[Spinraza] was effective in long-term follow-up,” researchers wrote. Noting a dearth of data on Spinraza’s long-term effectiveness…

A delayed diagnosis in spinal muscular atrophy (SMA) may occur in many cases due to the absence of clinical suspicion of the rare genetic disorder, an interview-based study concluded. In particular, treating physicians of pediatric patients often disregarded or misinterpreted signs reported by parents, leading to diagnostic delays,…

Men with spinal and bulbar muscular atrophy (SBMA) had slower nerve impulses leading to their forearm muscles when their arms were exposed to cold temperatures, a small study reported. These slower impulses correlated with reduced hand grip strength, and were significantly longer in adults with muscle weakness at…

The Muscular Dystrophy Association (MDA) has awarded $17 million among 70 new grants toward neuromuscular disease research, including $510,000 to two projects focused on spinal muscular atrophy (SMA). “The Muscular Dystrophy Association continues to fund the most innovative research that will lead to cures for a range…