Treatment with a high-dose regimen of Spinraza (nusinersen) was shown to safely improve motor function in children with spinal muscular atrophy (SMA) in the Phase 2/3 DEVOTE clinical trial. Most patients who switched from the originally approved dose to the high-dose regimen experienced improvements in motor function scores,…
Discussion
If you’ve read at least a few of my columns, you know that I hold on tightly to hope. It’s what keeps me plowing through the rough terrain of problems and crises, as my faith tells me that, one day, many of these difficulties will be solved. Now, it seems…
The case of a 51-year-old man ultimately diagnosed with spinal muscular atrophy (SMA) type 4 is believed to mark the first time this form of the rare genetic disease has had as its main symptom a false enlargement of the large muscle on the back of the lower leg. In…
Discussion
“Are you kidding me?!” Mandy’s wide eyes and dropped jaw expressed her genuine shock. Chelsea and I were discussing our recent frustrations with inefficiency and a lack of dignity in disability services, such as hospital care, wheelchair repair, and insurance policies. Chelsea chuckled, and I shrugged my shoulders. Nope, we’re…
Women with spinal muscular atrophy (SMA) can experience successful pregnancies and give birth to healthy babies when supported by specialist, team-based care, according to a U.K. case series. The report followed eight pregnancies in six women with SMA, all of which resulted in the birth of healthy babies —…
A rapid test using zebrafish was able to show that two children identified by genetic testing as possibly having spinal muscular atrophy (SMA) did not actually have the progressive disease, according to a new study. This finding, the researchers say, shows how these tiny fish — which have long been…
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