John Muir once wrote, “The mountains are calling, and I must go.” Every once in a while, that quote resonates in my heart. I am a Carolina girl who grew up in the foothills of the Great Smoky Mountains, along the rim of the Blue Ridge Parkway, and I somehow…
Discussion
Activating a molecular recycling process called autophagy can improve motor function and extend lifespan in a nematode worm model of spinal muscular atrophy (SMA), a new study reports. “We provide the first evidence that pharmacological activation of autophagy enhanced neuromuscular performance in the severe C. elegans SMA model,” researchers…
Discussion
For many people living with rare neuromuscular diseases, the most meaningful part of a recent Chicago gathering was not just the medical updates — it was finding a community that understood their daily struggles. The realization that they were not alone set the tone for MDA Engage: Chicago, a…
Discussion
Sleep-related breathing problems were found to ease over time in children with spinal muscular atrophy (SMA) types 2 and 3 receiving the widely approved therapies Evrysdi (risdiplam) or Spinraza (nusinersen). That’s according to a new study from Sweden that followed children and teens with the two disease…
Discussion
September always reminds me of the anniversaries of two incomprehensible disasters in the U.S.: 9/11 and Hurricane Helene, which devastated western North Carolina, including Ashe County, where I live. This year, though, September brought cause for celebration for people affected by spinal muscular atrophy (SMA). Earlier this month, the…
Discussion
“Alexa, turn off the alarm.” “OK. Good morning, Connie. Would you like to hear an inspirational quote?” “Sure, Alexa. Go for it.” “All right. ‘There is no elevator to success. You have to take the stairs.'” “But Alexa, I’m in a wheelchair.” “I cannot help you with that.” As a…
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