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

Author:

Ruythooren Fred12,Moens Pierre12

Affiliation:

1. Department of Orthopaedic Surgery, University Hospitals Leuven-Gasthuisberg, 3000 Leuven, Belgium

2. Institute for Orthopaedic Research and Training (IORT), University Hospitals Leuven-Gasthuisberg, 3000 Leuven, Belgium

Abstract

Spinal deformities are considered an important complication of neuromuscular disorders such as spinal muscular atrophy (SMA). SMA patients typically develop progressive early-onset scoliosis, which is associated with increased functional decline, discomfort, and respiratory dysfunction. Over the second decade of the twenty-first century, a lot has changed in terms of the therapeutic options available to people with SMA. Specifically, the use of pharmaceutical agents such as nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma), and risdiplam (Evrysdi) has dramatically changed the landscape for SMA patients. These medications significantly alter motor- and respiratory functioning, as well as the natural progression of spinal deformities. When evaluating these agents and their impact on the development of scoliosis and motor functioning, it is important to consider the timing of treatment initiation. In patients treated after they had already developed symptoms, a shift of phenotype to a less severe subtype has been observed. This results in a delay in the onset of scoliosis for the less severe SMA types and an increase in early-onset scoliosis for the severe types in patients who would typically not live to develop scoliosis. Patients who receive treatment before they develop symptoms achieve almost normal motor functioning and will likely have a significant decrease in scoliosis prevalence or at least delay its onset.

Publisher

MDPI AG

Reference75 articles.

1. Deconinck, N., and Goemans, N. (2020). Neuromuscular Disorders in Children: A Multidisciplinary Approach to Management Clinics in Developmental Medicine, Mac Keith Press.

2. Spinal Muscular Atrophy: A Clinical and Research Update;Markowitz;Pediatr. Neurol.,2012

3. Prospective Analysis of Strength in Spinal Muscular Atrophy;Iannaccone;J. Child Neurol.,2000

4. Consensus Statement for Standard of Care in Spinal Muscular Atrophy;Wang;J. Child Neurol.,2007

5. The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy patients: Review of the literature and a meta-analysis;Angeli;Eur. Spine J.,2022

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