Disclosures: Jaclyn Omura, MD:

Case Diagnosis: A patient with Spinal Muscular Atrophy (SMA) status post gene therapy underwent inpatient rehabilitation.

Case Description: A 22-month-old female with SMA type 1 (SMA1) received onasemnogene abeparvovec-xiol (Zolgensma) at 9 months of age. One year after treatment, the patient demonstrated improving functional gains and was admitted to inpatient rehabilitation for two weeks to progress functional mobility and track standardized SMA outcome measures.

Setting: Inpatient pediatric rehabilitation facilityAssessment/

Results: Our patient was very engaged and motivated with therapies. In terms of mobility, she had gross improvements in crawling speed and endurance. Comparing SMA outcome measures (CHOP INTEND, Hammersmith, WeeFIM) at admission and discharge, she had notable improvement in propping on extended arms, four-point kneeling, and supporting weight in standing. Outcome measures validated for children with SMA Type 2 and 3 were also used, given our patient’s course following treatment with Zolgensma was more consistent with a less clinically severe phenotype of SMA.

Discussion: SMA is an inherited genetic disease characterized by degeneration of alpha motor neurons in the spinal cord. Novel treatments such as Zolgensma have dramatically improved the prognosis for SMA type 1, however it is unclear how much or how fast these children will gain function . Our patient made good progress during her inpatient stay, and most of family’s stated goals were met. There is evidence these children have the potential to walk, as 2 children out of 15 in the study by Mendell in 2017 achieved this milestone by their 2 year follow up. More research is needed to identify duration of functional improvement, trajectory of functional gains over time, and how therapy frequency impacts function after receiving treatment.

Conclusion: Children with SMA1 treated with Zolgensma may represent an emerging population that will uniquely benefit from intensive rehabilitation.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/inpatient-rehabilitation-of-a-patient-with-spinal-muscular-atrophy-following-treatment-with-zolgensma/