Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3

Research output: Contribution to journalArticle

Abstract

With recent advances in the treatment of Spinal Muscular Atrophy (SMA), there is a strong need to increase knowledge on the involvement of organs and systems outside the central nervous system. We investigated bone metabolism, bone mineral density (BMD) and fractures, and their possible correlation with age and motor capacities. Thirty-two children with SMA (27 type 2, 5 type 3), mean age 40 ± 32.3 months, underwent two evaluations at an 18-month interval (V1 and V2). Twelve of these children also underwent a third evaluation at month 36 (V3). Diet, bone metabolism, BMD, X-rays, and motor function (by the Hammersmith Functional Motor Scale Expanded – HFMSE – and the Upper Limb Module – ULM) were assessed. At V1, 25-OH vitamin D3 (25OH D) therapy was started, and dietary calcium intake adjusted according to the recommended dietary allowance. Low 25OH D levels and asymptomatic vertebral fractures were mainly observed at V1. At all visits, bone resorption markers were higher than normal. At V2 and V3, decreased BMD was observed. Higher spine BMD values at follow-up were associated with HFMSE score >12 at baseline (p<0.03). This study suggests that even young children with SMA are at risk of severe bone fragility. Further investigations of the molecular mechanisms leading to altered bone metabolism in SMA could help identify novel therapeutic targets and establish better guidelines for bone fragility management.

Original languageEnglish
Pages (from-to)525-532
JournalNeuromuscular Disorders
Volume29
Issue number7
DOIs
Publication statusPublished - Jan 1 2019

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Spinal Muscular Atrophies of Childhood
Bone Density
Spinal Muscular Atrophy
Bone and Bones
Nijmegen Breakage Syndrome
Cholecalciferol
Dietary Calcium
Recommended Dietary Allowances
Bone Fractures
Bone Resorption
Upper Extremity
Spine
Therapeutics
Central Nervous System
X-Rays
Guidelines
Diet

Keywords

  • Bone density
  • Bone metabolism
  • Bone turnover markers
  • Children
  • Fragility fractures
  • Spinal Muscular Atrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Cite this

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title = "Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3",
abstract = "With recent advances in the treatment of Spinal Muscular Atrophy (SMA), there is a strong need to increase knowledge on the involvement of organs and systems outside the central nervous system. We investigated bone metabolism, bone mineral density (BMD) and fractures, and their possible correlation with age and motor capacities. Thirty-two children with SMA (27 type 2, 5 type 3), mean age 40 ± 32.3 months, underwent two evaluations at an 18-month interval (V1 and V2). Twelve of these children also underwent a third evaluation at month 36 (V3). Diet, bone metabolism, BMD, X-rays, and motor function (by the Hammersmith Functional Motor Scale Expanded – HFMSE – and the Upper Limb Module – ULM) were assessed. At V1, 25-OH vitamin D3 (25OH D) therapy was started, and dietary calcium intake adjusted according to the recommended dietary allowance. Low 25OH D levels and asymptomatic vertebral fractures were mainly observed at V1. At all visits, bone resorption markers were higher than normal. At V2 and V3, decreased BMD was observed. Higher spine BMD values at follow-up were associated with HFMSE score >12 at baseline (p<0.03). This study suggests that even young children with SMA are at risk of severe bone fragility. Further investigations of the molecular mechanisms leading to altered bone metabolism in SMA could help identify novel therapeutic targets and establish better guidelines for bone fragility management.",
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author = "Giovanni Baranello and Silvia Vai and Francesca Broggi and Riccardo Masson and Arnoldi, {Maria Teresa} and Riccardo Zanin and Chiara Mastella and Bianchi, {Maria Luisa}",
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AU - Baranello, Giovanni

AU - Vai, Silvia

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AU - Masson, Riccardo

AU - Arnoldi, Maria Teresa

AU - Zanin, Riccardo

AU - Mastella, Chiara

AU - Bianchi, Maria Luisa

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