Intensive inpatient rehabilitation may help to improve functional outcomes for patients with spinal muscular atrophy (SMA), who have received gene therapy, according to a case study published in PM & R.

A child who had previously received onasemnogene abeparvovec-xioi (Zolgensma®) was brought into intensive inpatient rehabilitation to improve functional gains. At the end of the inpatient rehabilitation stay, the patient had improvements in propping on extended arms, 4-point kneeling, and supported weight in standing.

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She was also able to improve her crawling distance to 78 feet (4 x 18 feet) with intermittent seated play compared to only 10 feet at the time of admission. Standing with minimal to moderate assistance, depending on fatigue level, was also achieved. This included periods of 3 to 4 seconds with standby assistance using bilateral upper extremity and bilateral ankle-foot orthosis (AFO) support.

“Novel treatments have dramatically improved the medical and functional prognosis for patients with SMA. The heterogeneity of outcomes persists, without a clear understanding of prognostic factors. Rehabilitation has become an integral part of the care plan for these patients given the potential to sit independently, crawl, stand, and even walk,” the authors said.

Functional changes were also observed using assessment tools including the Hammersmith Infant Neurological Examination (HINE), Hammersmith Functional Motor Skills (HFMS), Hammersmith Functional Motor Skills Evaluation (HFMSE), and the Functional Independence Measure for Children (WeeFIM).

The HINE improved from a score of 19 to 20 between admission and discharge. The HFMS and HFMSE improved from admission to discharge as well, with changes in scores from 25 to 27 and 29 to 31, respectively. A change from a score of 1 to 3 in the Mobility section of the WeeFIM was also observed.

“Given the intensive resources and financial investment required for onasemnogene abeparvovec-xioi, we need to better understand how rehabilitation dosing impacts functional outcomes and utilize both established and innovative routes for delivering therapy,” the authors concluded.

The patient, diagnosed with SMA type 1, received onasemnogene abeparvovec at 9 months of age, and functional gains were noted over the following 11 to 12 months by the parents, physiatrist, and physical therapist. This time period coincided with COVID-19 restrictions which limited access to outpatient community therapy.

At 22 months of age, the patient was enrolled in intensive inpatient rehabilitation for 11 days. She received daily physical and occupational therapy focused on mobility. At the time of admittance, she was making progress toward independent rolling and sitting, as well as supported crawling and standing.


Omura JC, Freeman CL, Perlman SJ, Fuentes MM. Inpatient rehab admission for a patient with spinal muscular atrophy status post gene therapy. PM R. Published online January 19, 2023. doi:10.1002/pmrj.12948