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 children…
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 determine…
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 among…
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, the…
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 cold…
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 of…
New protein biomarkers that can distinguish between the different types of spinal muscular atrophy (SMA) were identified in a recent study. According to researchers, the discovery supports further investigation to determine their utility as biomarkers for patient classification, monitoring treatment effectiveness, and identifying severity-specific treatments. Findings were detailed in…
Respiratory muscle training in spinal muscular atrophy (SMA) has the potential to stabilize or improve breathing function, a study has found, although the findings need to be substantiated by further research. In the study, adults and children with SMA demonstrated a dose-dependent increase in breathing muscle fatigue using a…
Muscle fasciculations, or twitches, in adolescents and adults with later onset forms of spinal muscle atrophy (SMA) were detected best with a muscle ultrasound, a study concluded. Muscle ultrasound combined with a physical examination is useful for screening adolescents and adults with weakness in muscles closest to the center…
Two years of training with a wearable cyborg hybrid assistive limb (HAL), combined with leuprorelin therapy, markedly improved the walking abilities of a man with spinal and bulbar muscular atrophy (SBMA), a case study reports. “This report describes the first successful case in the history of SBMA treatment in…
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