Columns

Two previously unknown large deletions involving the SMN1 gene, whose loss is the primary cause of spinal muscular atrophy (SMA), were identified in two women with a mild form of the disease using long-read whole-genome…

Like most humans in the world, I do not like to cry in front of other people. My life with SMA does not allow me a lot of grace to conceal my physical weaknesses and vulnerabilities. It…

Note: This column describes the author’s experiences with Cymbalta (duloxetine), Prozac (fluoxetine), and Celebrex (celecoxib). Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. After months…

Note: This column describes the author’s own experiences with fentanyl and other pain medications. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. “You really know pain,…

Spinraza (nusinersen) is able to help slow lung function decline in people with spinal muscular atrophy (SMA), even if treatment is started when patients are already experiencing disease symptoms, a new study shows.

In episode 158, host Kevin Schaefer talks with Alberto Lopez from Los Angeles County, California. Alberto is a consultant and a father of three daughters, one of whom has SMA. He discusses adapting…

Eloise Pillarella shares how living with spinal muscular atrophy (SMA) shaped her journey from art student to middle school science teacher in New York City. The post Middle school teacher who has SMA talks…

People with spinal muscular atrophy (SMA) show high long-term adherence to treatment with Evrysdi (risdiplam), with several patients remaining on the oral therapy after three years, according to a real-world study in Spain. The observational study,…

My aunt, who doesn’t throw anything away, recently sent me an artifact from my childhood: a pink paper pamphlet titled “Meet Connie.” I was diagnosed with SMA type 2 when I was…

The use of disease-modifying therapies (DMTs) — all widely approved in the last 10 years — may help children with spinal muscular atrophy (SMA) maintain nutrition and prevent stunted growth, an Australian study suggests.