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…
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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…
For more than four decades, comedian Jerry Lewis hosted the MDA Labor Day Telethon on behalf of the Muscular Dystrophy Association. That annual event helped the MDA become the nation’s largest non-government source of funding for neuromuscular disease research, with more than $1.4 billion disbursed since its establishment 68…
Early intervention is crucial for the successful management of spinal muscular atrophy (SMA), according to the authors of a review study that discusses the progress made in newborn screening and treatment strategies for this disease. The review study, “Progress in treatment and newborn screening for Duchenne…
Valproic acid, or valproate, is a relatively safe drug that improves gross motor function in patients with spinal muscular atrophy (SMA), but fails to improve the functionality of specific muscles, including those involved in breathing, a review finds. The study, “Efficacy and Safety of Valproic Acid for…
Cure SMA and Parent Project Muscular Dystrophy (PPMD) have formed a strategic partnership with Prometheus Research to improve data collection and analysis for patients with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Both U.S. nonprofit groups have developed notable patient registry initiatives in the past decade. The Cure…
Five states — Missouri, Minnesota, New York, Pennsylvania and Utah — now routinely screen newborn babies for spinal muscular atrophy (SMA), while another 13 have passed laws either requiring such screening or are in the process of doing so. Pennyslvania began testing infants for the neuromuscular disease on March 1,…
Diagnostic reference levels indicate that people with spinal muscular atrophy (SMA) do not require higher radiation doses to monitor the administration of Spinraza (nusinersen) in the spinal canal, despite having severe anatomical alterations, a study says. The study, “Radiation exposure of image-guided intrathecal administration of nusinersen to…
A direct relationship may exist between early non-neuromuscular symptoms and the lack of survival motor neuron (SMN) protein directly linked to spinal muscular atrophy (SMA), a study reports. The findings of the study, “Systemic nature of spinal muscular atrophy revealed by studying insurance claims,” were published in…
