“Where are the cartoons?” I jokingly asked my mom while “Sherri,” the daytime talk show, played on a television above me. She chuckled as I scanned the waiting room, taking it all in. There are moments in life when gratitude and fear coexist in the most complicated and overwhelming of…
A review study found that the neuromuscular junction (NMJ), the site where nerves connect to the muscles they control, fails to mature normally soon after birth in people with spinal muscular atrophy (SMA), leaving it structurally underdeveloped and functionally vulnerable before the loss of nerve cells that facilitate movement.
Discussion
The spring of 1997 arrived with a bang. Initially stunned at the revelation of an unplanned pregnancy, my husband, Randy, and I warmed up quickly to the baby idea and considered ourselves as prepared as possible. Our son, Matthew, who was 10 years old, knew enough about the birds and…
Treatment with Evrysdi (risdiplam) improved motor function and quality of life in children and adults with spinal muscular atrophy (SMA), a real-world study in Hong Kong shows. The findings, from 34 patients followed for up to three years, showed clinically meaningful gains in motor and upper-limb function, particularly in…
Discussion
In my life with SMA, my favorite thing to talk and write about is my caregiver community. They are truly exceptional and amazing people who faithfully show up, step up when my needs change, and courageously do hard and messy things to help me live well. I am…
Far-field potentials (FFPs), electrical signals recorded with surface electrodes after nerve stimulation, may help track disease progression in people with spinal muscular atrophy (SMA), a study suggests. The strength of these signals, or FFP amplitude, was significantly lower in people with SMA than in healthy participants, but not significantly different…
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