Evaluation of body composition as a potential biomarker in spinal muscular atrophy

<p><strong>Introduction:&nbsp;</strong>We aimed to investigate the correlation between body composition (BC) and spinal muscular atrophy (SMA)-specific motor function assessments.</p> <p><strong>Methods:&nbsp;</strong>Patients with SMA types I or II, aged 1 to 10 years, were recruited in this cross-sectional study. The protocol included anthropometric measurements, and dual-energy X-ray absoprtiometry to assess fat mass (FM), lean mass (LM), fat-free mass (FFM), FM and FFM indexes (FMI, FFMI), and motor function assessments (Children&#39;s Hospital of Philadelphia Infant Test of Neuromuscular Disorders scale for SMAI, and Hammersmith Functional Motor Scale-Expanded for SMAII).</p> <p><strong>Results:&nbsp;</strong>Eighty-eight children were included. All had a higher FM percentage than reference values. Motor function was moderately correlated with body mass index (BMI), FFMI, and LMI in SMAI, and weakly correlated with FFMI, LMI, and LM:FM ratio in SMAII.</p> <p><strong>Discussion:&nbsp;</strong>BC shows promise as a potential biomarker for SMA, but further studies are needed.</p> <p>&nbsp;</p>