Treatment with Spinraza (nusinersen) led to sustained improvements in motor function in children and adolescents with spinal muscular atrophy (SMA), according to a real-world study from Czechia and Slovakia. Improvements were generally greatest during the first months of therapy and more pronounced in younger children, with benefits largely…
Discussion
Treatment with melatonin and pioglitazone, two approved drugs that act on metabolism, improved motor function and prolonged survival in a mouse model of spinal muscular atrophy (SMA), with melatonin having the greater impact on survival, a study showed. The findings provide “strong rationale for exploring metabolism-targeted second-generation therapies to…
Discussion
Treating adults with late-onset spinal muscular atrophy (SMA) with Evrysdi (risdiplam) partially normalized changes in certain RNA molecules found in blood, a study found. These molecules — cell-free messenger RNA (ccfmRNA) — are associated with inflammation and cellular stress. They are found in various bodily fluids, including blood,…
Discussion
Identity-first language or person-first language? An individual’s choice to use one or the other is a reflection of them and the culture surrounding them. For example, I prefer identity-first language because I believe it’s important to remind society that its existing infrastructures can disable me more than my SMA.
Discussion
Like every human being, I am complex. Living with a rare genetic disability like spinal muscular atrophy (SMA) adds another layer to that complexity. Labels like “female,” “disabled,” and “nerd” cannot capture the whole of who I am — my stories and relationships, my joys and sorrows, hopes and…
Discussion
It started with what I had assumed was an ordinary breakout. I’d been stressed from moving for the first time in my life, and had punted on my typically zealous hygiene because, well, moving. You can’t really blame your skin for getting bad when you stop doing the things that make it good. Breakouts are already stressful enough, but this…
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