Spinal muscular atrophy (SMA) type 1 has different disease courses between Plain (Amish and conservative Mennonite) communities, a recent natural history study shows. The study, “Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history,” was published in the journal Plos One.
When Megan Cardenas and her husband brought their 10-day-old son, Derek, to be screened for spinal muscular atrophy (SMA), the doctor told them their baby was simply lazy. The infant might not be meeting early milestones, but he could roll over when placed on his side — something babies…
A $123,933 grant will boost the efforts of University of Oxford scientist Carlo Rinaldi, MD, PhD, to advance understanding of spinal and bulbar muscular dystrophy (SBMA) in the hopes that it will eventually lead to a treatment. The three-year grant is being co-funded by the…
Additional research is still needed on how and when to use Spinraza (nusinersen) in several different types of spinal muscular atrophy (SMA), according to researchers in a recent review study. The study, “Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps,” was published…
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
Researchers have validated three potential spinal muscular atrophy blood biomarkers as able to measure disease severity in mouse models of severe and intermediate forms of SMA. But the three do not appear to allow for monitoring of treatment response. The study, “Evaluation of potential effects of Plastin 3…
Polish orthopedic surgeon Tomasz Potaczek says people with spinal muscular atrophy (SMA) who have had surgery to correct scoliosis are routinely denied access to Spinraza (nusinersen) because of the difficulty in administering the injections intrathecally (via the spinal canal). To correct what he calls this “injustice,” Potaczek has…
Parents of children with spinal muscular atrophy (SMA) — as well as doctors — often don’t give enough importance to the role good nutrition plays in improving patients’ quality of life, said a leading Polish SMA expert. Eva Toporowska, a pediatric gastroenterologist at the Medical University of Lodz, spoke on “Diet and…
For the first time ever, British spinal muscular atrophy (SMA) patients and their families have taken to the streets to voice anger over a draft recommendation not to provide government funds to cover the cost of Spinraza (nusinersen) to treat the disease. Apparently, the noisy protests have had…
Lukasz Szczepara showed up to a recent spinal muscular atrophy (SMA) conference in Poland wearing a camouflage T-shirt emblazoned with the words “Deadly Serious.” It was no coincidence. Szczepara and his Venezuelan wife, Yndhira Ramírez, have made it their life’s mission to ensure one thing: the health of their younger…
