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The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) can improve motor outcomes for children with spinal muscular atrophy (SMA) effectively, especially when it’s given in the first months of life, a review paper shows. “There is substantial evidence of improved outcomes when Zolgensma is administered early to children…
A group of proteins called the SNARE complex, which normally helps regulate how nerve cells receive chemical messages from other nerves, is disrupted in spinal muscular atrophy (SMA), according to a study with mouse models. The findings suggest a deficiency in SMN, the protein missing in SMA, may…
I’m just a normal guy who happens to have physical limitations because of SMA. At least, that’s how I want others to see me. But is that how I see myself? I ask because I can be extremely hard on myself, sometimes even getting on my own nerves.
Our granddaughter, Clara, sails through her page of first-grade sight words. She guesses wildly at times, but she’s usually quick to sound out most of the new words. I take opportunities to add bits of often-confusing trivia about homonyms, homophones, and homographs and relay some old stories. Clara…
Evrysdi (risdiplam) may be associated with longer survival and greater motor improvements than Spinraza (nusinersen) in children with spinal muscular atrophy (SMA) type 1, according to an indirect comparison of clinical trial data. Sponsored by Roche — which markets Evrysdi — the analysis “leverages the longest…
Traveling to a concert three and a half hours away requires planning, which is all the more true when my disability enters the equation. Between securing transportation, finding an accessible hotel room, and making sure the venue is accessible, some might deem a trip like this one not…
Most spinal muscular atrophy (SMA) patients with four or more copies of the backup SMN2 gene achieved or maintained motor milestones after treatment with Zolgensma (onasemnogene abeparvovec), according to real-world data from the RESTORE patient registry. The one-time gene therapy from Novartis was also found safe in…
It’s been nearly two weeks since most of the U.S. “sprang forward” into daylight saving time (DST), and no matter how many times we go through the biannual time changes, it always seems to take this long for everyone to fully adjust. Some people may even still need to…
Something you may not know about me is that I have two homes. My first abode is a one-story home that was built to fit my needs almost 20 years ago. It’s in a quiet neighborhood with broken-down streets that make going out for a walk difficult in my…
Treatment with apitegromab for two years continues to stabilize or improve measures of motor function, fatigue, and life quality in children and young adults with spinal muscular atrophy types 2 and 3 who are not able to walk. That’s according to data from the TOPAZ clinical…
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