Best Practices for the Orthopaedic Care of Children with Spinal Muscular Atrophy: A Consensus Statement from the European Neuromuscular Centre Standard of Care Orthopaedic Working Group

Abstract

Purpose: Spinal muscular atrophy (SMA) is a genetic disease resulting in orthopaedic problems that warrant intervention. Recent genetic therapies appear to improve the natural course of this disease, prompting care providers to rethink treatment strategies. Insufficient high-quality evidence exists to guide optimal intervention in this new landscape. To address this, the European Neuromuscular Centre (ENMC) tasked an orthopaedic subgroup to update previous recommendations. Materials and Methods: A consensus statement on orthopaedic treatment of patients with SMA undergoing genetic therapy was sought via Delphi method. After review of the orthopaedic literature, three iterative surveys were administered from 2015-2016 to worldwide experts in orthopaedic care of children with SMA. Surveys identified important topics for optimal management, solicited responses regarding management and evaluation of identified topics, and clarified decision-making strategies and indications for evaluation and management, respectively. In light of new evidence of the long-term effects of gene therapy on SMA patients, an additional review of literature was used to contextualize the consensus recommendations. Results: Thirteen experts on orthopaedic management of SMA identified treatment of spine deformity, hip instability, and joint contractures as issues of importance. Experts recommended instrumentation in spinal deformity for major curves greater than 50 degrees, while monitoring pain, respiratory function, kyphosis, pelvic obliquity, functional status, trunk imbalance, and rib deformity. Preferential use of magnetically controlled growth constructs and performance of final fusion with skipped levels to accommodate intrathecal access were also endorsed. Additionally, experts advocated for surgical correction of hip instability and/or contractures that cause pain or functional impairment. Conclusions: Practice guidelines for management of scoliosis, hip instability and joint contractures were created to aid clinical decision-making in the era of genetic therapy.

Spinal Muscular Atrophy Scoliosis in the Era of Background Therapies—A Review of the Literature

“…Consensus initiatives for best practice guidelines suggest that for SMA patients under 8 years old requiring surgery for spinal deformity (almost all SMA type I and II patients), surgeons should use growth-friendly instrumentation to preserve both growth potential and possibly pulmonary function [ 21 ]. For older patients and more skeletal mature patients, definitive PSF is effective at controlling curve progression without negatively impacting trunk height or pulmonary function [ 13 ].…”