Diana Bharucha-Goebel, MD, and Bakri Elsheikh, MBBS, FRCP, on Setting Realistic Goals for Long-Standing SMA

This video originally appeared on our sister site, NeurologyLive®.

...[I]f a patient tells you they don’t feel as worn down after an illness as they used to, that matters. It may not register on a formal scale, but it’s a real, measurable improvement in their quality of life.

An autosomal recessive disorder, spinal muscular atrophy (SMA) is caused by mutations in both copies of the SMN1 gene on, which is found on chromosome 5q. It appears in about 1 in 15,000 live births. Carrier rates vary by ethnicity in the United States, from 1 in 47 for Whites to 1 in 72 for African Americans, with respective detection rates of 94.8% and 70.5%. Progressive muscle weakness and atrophy result from the dysfunction and irreversible loss of alpha motor neurons in the spinal cord and brainstem in patients with SMA.

Cure SMA, an advocacy group focused on pushing forward the care of patients with SMA, released a new best practices guideline earlier this year regarding decision-making for healthcare providers (HCP), patients, and caregivers in North American and Western Europe. CGTLive®'s sister site, NeurologyLive^® brought together study authors Diana Bharucha-Goebel, MD, a clinical neurophysiologist at Children’s National, and Bakri Elsheikh, MBBS, FRCP, a professor of neurology at The Ohio State University Wexner Medical Center, to help translate these recent updates.

In the third episode, Bharucha-Goebel and Elsheikh examine how treatment decisions differ for patients with long-standing or adult-onset SMA. They highlight the need to assess coexisting medical complications, patient preferences, and logistical factors that can affect therapy delivery. The discussion emphasized setting realistic goals—such as stabilization or slowed decline—as valid outcomes, while also acknowledging meaningful but often unmeasured improvements like reduced fatigue or fewer hospitalizations. The duo also touched on how these insights shape communication with families and support policy decisions around treatment authorization.

To visit the 2025 Cure SMA Update in Best Practices, click here.