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1136 - Rehabilitation after Orthopedic Surgeries in Patients with Spinal Muscular Atrophy Type 1: A Case Series

Thursday, February 27, 2025

5:00 PM - 6:30 PM MST

Presenting Author(s)

EA

Edel Auh, MD

Resident Physician
McGaw Northwestern/Shirley Ryan AbilityLab
Chicago, Illinois, United States

Co-Author(s)

NH

Nova Hou, MD

Pediatric Rehabilitation Fellow
Northwestern University / Shirley Ryan AbilityLab
Chicago, Illinois, United States
EC

Elizabeth Chan, MD

Attending Physician
Northwestern University / Shirley Ryan AbilityLab
Chicago, Illinois, United States
AR

Ana-marie Rojas, MD

Attending Physician Pediatric PMR, Assistant professor, Fellowship Program Director
Shirley Ryan AbilityLab
Chicago, Illinois, United States
JL

Jill E. Larson, MD

Assistant Professor
Lurie Children's Hosptial
Chicago, Illinois, United States

Case Diagnosis: Spinal muscular atrophy (SMA) type 1 is a genetic neuromuscular disorder resulting in motor neuron degeneration and skeletal muscle atrophy. With new disease modifying treatments, the life expectancy and functional outcomes for patients with SMA have improved. Therefore, there is a growing need for combined orthopedic and rehabilitative management of hip subluxation and dislocations, lower extremity contractures, and pain.

Case Description: We present a 7-year-old female and a 6-year-old male with SMA type 1. Both patients receive nusinersen maintenance therapy although the male child also received onasemnogene abeparvovec at 23-months-old. Initially, both achieved independent sitting balance but not ambulation. The female child had hip and knee flexion contractures, right hip subluxation, and left femoral head dislocation. The male child had bilateral coxa valga, acetabular dysplasia, and hip subluxations. Both children underwent orthopedic surgery, including bilateral proximal femoral varus derotational osteotomies, adductor myotomies, hamstring lengthenings, and San Diego acetabuloplasties. During inpatient rehabilitation, both patients were limited in therapy participation due to pain and anxiety, which was managed with acetaminophen and diazepam. Both children had significant functional gains, including improvements in knee flexion and standing tolerance. The male child even initiated gait training.

Discussions: In nonambulatory patients with SMA, hip dislocations and lower extremity contractures are associated with a high prevalence of pain. Management with orthopedic surgery is indicated given improved life expectancy and functional gains. Recovery and post-operative rehabilitation are challenging due to increased scarring and tissue fibrosis leading to joint stiffness and pain. However, range of motion exercises, scar massage, and core strengthening through rehabilitation results in reductions in hip pain and improved standing tolerance.

Conclusions: With new therapeutics improving life expectancy and outcomes for patients with SMA, there is a need for surgical management of hip subluxations and dislocations and contractures. It is imperative to incorporate intensive rehabilitation post-operatively to maximize functional outcomes.