The start of a newborn screening (NBS) program for spinal muscular atrophy (SMA), allowing early treatment for infants found to have the disease, added to healthy years of life for patients in Belgium, according to a real-world analysis of its cost-effectiveness. “Spinal muscular atrophy newborn screening coupled with early…
On a Sunday morning in mid-November, I opened my email to a newsletter from one of my favorite writers, Catherine Andrews. In it, she named the past 15 years of her life as being particularly contractive. She struggled with everything, from her relationship with alcohol to dating and creativity.
Researchers in the U.S. report using a gene-editing method to alter the SMN2 gene sequence, leading to normal levels of the survival motor neuron (SMN) — the protein that is lacking in spinal muscular atrophy — in early studies. These results were obtained in a cell line derived from…
A few years ago, I rolled into the local disability center, as I often did at the time, for a day of exercise, crafting, and volunteer work. But because it was Christmas, I’d brought something extra. My nurse carried a stack of cards I’d made for staff…
A type of surgery to correct scoliosis, a spine deformity, was found to be generally safe and effective in young people with spinal muscular atrophy (SMA) type 1, a small study shows. Called growth friendly instrumentation, the procedure had been well established for people with SMA type…
Consistent access to disease-modifying therapies (DMTs) is a major concern for parent caregivers of children with spinal muscular atrophy (SMA) in Canada, a study reported. Barriers to such treatments, as described by caregivers, included variable regulatory approvals across different Canadian provinces, high costs, and insufficient healthcare infrastructure. “Our…
Some people live for cold weather. They hate the heat, for some strange, inexplicable reason, and live for the day when they can pull out their chunky knit sweaters and thick, fuzzy socks. I am not one of those people. Aesthetically, I love the colder months. I love candles and…
A drop in the levels of four proteins in the cerebrospinal fluid (CSF) may be a marker of response to treatment with Spinraza (nusinersen) in people with spinal muscular atrophy (SMA), a real-world data study suggests. The predictive value of the four-protein panel — which includes neurofilament light chain,…
One thing I’ve learned from not going through Singapore’s formal education system is this: When it’s time to be a working adult, to earn your keep, it’s incredibly hard to persuade someone to hire you if you have a blank résumé. Everyone has to start somewhere to gain employment,…
How spinal muscular atrophy (SMA) manifests among people who carry four copies of the SMN2 gene varies, ranging from type 2 to type 4, with functional abilities showing a tendency to decline with age, a study in Italy finds. Understanding how the disease progresses over time and what influences…