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,…

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.

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…

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…

Treatment with Evrysdi (risdiplam) was associated with stable overall motor function and improved upper limb function in a small Chinese study of 15 people with spinal muscular atrophy (SMA). Upper limb function scores increased in the type 2 group and the combined types 3–4 group, although neither change…