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

Muscle Nerve. 2020 Apr;61(4):530-534. doi: 10.1002/mus.26823. Epub 2020 Feb 7.

Abstract

Introduction: We aimed to investigate the correlation between body composition (BC) and spinal muscular atrophy (SMA)-specific motor function assessments.

Methods: 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's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scale for SMAI, and Hammersmith Functional Motor Scale-Expanded for SMAII).

Results: 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.

Discussion: BC shows promise as a potential biomarker for SMA, but further studies are needed.

Keywords: Hammersmith Functional Motor Scale―Expanded; The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders; body composition; fat-free mass; spinal muscular atrophy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Absorptiometry, Photon
  • Adipose Tissue / diagnostic imaging
  • Adipose Tissue / physiopathology*
  • Biomarkers
  • Body Composition / physiology*
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Female
  • Humans
  • Infant
  • Male
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / diagnostic imaging
  • Muscular Atrophy, Spinal / physiopathology

Substances

  • Biomarkers