With an estimated 1.37 billion inhabitants, India will likely surpass China in five years as the world’s most populous country. That also means it will have more rare-disease patients than any nation. It already has more than twice as many as the 28-member European Union. Harsha K. Rajasimha, a genomics…
News
A global dysregulation affecting multiple signaling cascades operating inside motor neurons may be the underlying cause of spinal and bulbar muscular atrophy (SBMA), results of a mouse study reveal. The findings of the study, “Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of…
Zolgensma (AVXS-101), an investigational gene therapy for patients with spinal muscular atrophy (SMA), improves motor function and prolongs survival in infants with SMA type 1 under six months of age, Phase 3 trial interim data show. These findings from the ongoing, multicenter and open-label Phase 3 STR1VE trial (…
SMN protein deficiency in spinal muscular atrophy (SMA) may lead to gastrointestinal (GI) dysfunction by shrinking the smooth muscle in the bladder and altering specific cells in the colon, according to a mouse study. The study, “Smooth muscle atrophy and colon pathology in SMN deficient mice,”…
A video game called ACTIVE could be used to monitor changes in motor function in people with spinal muscular atrophy (SMA) types 2 and 3, according to a new study. The video game’s measurements aligned with standard tests used to monitor people with SMA, but require less expertise to administer than these…
More frequent participation in social and leisure activities is associated with less caregiver burden and emotional distress for mothers of patients with spinal muscular atrophy (SMA), according to a Dutch study. The research, “Participation and mental well-being of mothers of home-living patients with spinal muscular atrophy,”…
Use of speech-generating devices (SGDs) improves the quality of life of children with spinal muscle atrophy (SMA) type 1 through better communication skills, greater independence, and personal relationships, according to the results of a survey of parents. The study, “Communication skills among children with spinal muscular atrophy…
Spinal muscular atrophy (SMA) patients transitioning from pediatric to adult care face unmet health needs and possible barriers to health services, according to a study aimed at providing insight into how adults with SMA experience the healthcare system, with a particular emphasis on their transition from pediatric to adult…
Through extensive experiments in cell and animal models of spinal muscular atrophy (SMA), investigators have demonstrated the possible usefulness of two protease inhibitors — compounds that stop certain enzymes from degrading proteins — to treat SMA, a study reports. Researchers reported that these two protease inhibitors can increase the levels…
Adults and children with neuromuscular disorders — including those with spinal muscular atrophy (SMA) — are living longer, according to a 12-year population-based study in Ontario, Canada. The recent drop in mortality is likely due to the latest advances in the management of respiratory complications, newer technologies for lung hygiene and night…
