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The blood creatinine-to-cystatin-c ratio (CCR), an indicator of muscle mass and strength, may be a biomarker of treatment response in children with spinal muscular atrophy (SMA), a study in China shows. Increases in the ratio were significantly…
“Do you remember when Dad took us kite flying?” I asked my brother, Gabriel. We were on a train ride home from the Sands Theatre, where we’d just seen an…
My goal in college was to become a special education teacher. I had a dream work-study job at a nearby elementary school, assisting in two special ed classrooms. My career plan derailed slightly when I married, moved, and…
For the past two years, my friend Pam and I have attended Night to Shine, a special prom event held in cities around the world on the same night, created by the Tim…
The strength of nerve signals to muscles may serve as a marker of disease severity, and as a means to track responses to Spinraza (nusinersen) treatment, in children with spinal muscular atrophy (SMA), the…
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…
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…
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…
“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…
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…
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