News

Siblings of people with spinal muscular atrophy (SMA) who do not have the disease themselves tend to learn about it gradually over time from both their parents and external sources, a study shows. Findings from interviews with families affected by SMA highlight the importance of parents discussing the…

Adults with spinal muscular atrophy (SMA) can now receive treatment with Spinraza (nusinersen) at three new sites in England. With the addition of these centers, there are now 11 National Health Service Foundation Trust sites across the country that offer the disease-modifying therapy developed by…

Full-scale recruitment for an AUD$20 million (about $13.9 million U.S.) nationwide study to screen for severe genetic conditions has begun in Australia. Following the results of a pilot program that tested 60 couples, the current study seeks to screen 10,000 volunteer couples for genetic variants that raise their risk…

A better understanding of the needs of adults with spinal muscular atrophy (SMA), best ensuring for their mental and social — as well as physical — well-being, is necessary to guide future research, care recommendations, and policy decisions, a review study states. Among its findings was strong support for treatments…

Adopting image-guided techniques may help physicians lower the risks of complications associated with the administration of Spinraza (nusinersen) in patients with spinal muscular atrophy (SMA), a study has found. Physicians caring for these patients should be familiar with the different techniques and possible complications of treatment administration,…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26…

Berberine, a plant-derived compound often used in Chinese medicine, is able to clear the toxic protein clumps found in neurodegenerative diseases such as spinal and bulbar muscular atrophy (SBMA), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia, an early study in motor neurons suggests. The study, “…

[et_pb_section fb_built=”1″ admin_label=”section” _builder_version=”3.22″][et_pb_row admin_label=”row” _builder_version=”3.25″ background_size=”initial” background_position=”top_left” background_repeat=”repeat”][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_text admin_label=”Text” _builder_version=”3.27.4″ background_size=”initial” background_position=”top_left” background_repeat=”repeat”]Lung function in people with earlier-onset forms of spinal muscular atrophy (SMA) tends to decline gradually throughout childhood and stabilizes in early adulthood, according to data from a population-based natural history study.

The frequency with which spinal muscular atrophy (SMA) is found in newborns may be lower than previously thought, according to one-year data from an SMA screening program in the state of New York. Based on expected disease frequency, the program anticipated that 20 to 38 of the more than…

Lung ultrasound is a safe and reliable bedside tool to detect atelectasis (partial lung collapse) early in children with neuromuscular diseases, including spinal muscular atrophy (SMA), a study suggests. This radiation-free method could be used to monitor lung health and identify partial lung collapse in a patient group already…