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…
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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…
Saudi Arabian doctors need to be more aware of consensus guidelines for managing patients with spinal muscular atrophy (SMA) and their role in the variability of care for these children, a study says. The study, “Effect of new modalities of treatment on physicians management plan for patients with spinal muscular…
Patients with spinal-bulbar muscular atrophy (SBMA) are more likely to be affected by metabolic disorders, including insulin resistance and fatty liver disease, which can lead to heart disease and serious liver damage, a study says. The study, “Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in…
Leuprorelin acetate may be a promising therapy to minimize swallowing dysfunction in patients with spinal and bulbar muscular atrophy (SBMA), a study finds. The study, “Efficacy and safety of leuprorelin acetate for subjects with spinal and bulbar muscular atrophy: pooled analyses of two randomized-controlled trials,” was published in the…
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…
Treatment with Spinraza (nusinersen) was able to resolve many severe and widespread skin lesions in a 7-month-old infant with spinal muscular atrophy (SMA) type 1, a case report shows. Although this is just…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
