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Vitamin D status and muscle function in children with neurofibromatosis type 1 (NF1)

C W Hockett1, J Eelloo, S M Huson

  • 1Department of Epidemiology, Colorado School of Public Health, Denver, CO, USA.

Journal of Musculoskeletal & Neuronal Interactions
|March 1, 2013
PubMed

Insights

Children with neurofibromatosis type 1 (NF1) show impaired muscle function, specifically reduced jumping power and force, compared to their siblings. Vitamin D levels did not differ between groups and were not linked to muscle performance in this study.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Musculoskeletal Health

Background:

  • Neurofibromatosis type 1 (NF1) is a genetic disorder affecting multiple systems.
  • Muscle function deficits are reported in NF1, but the role of vitamin D is unclear.

Purpose of the Study:

  • To compare vitamin D status and muscle function in children with NF1 versus their unaffected siblings.
  • To investigate the relationship between vitamin D levels and muscle performance in NF1.

Main Methods:

  • Cross-sectional study of children (5-18 years) with NF1 and unaffected siblings.
  • Measured serum 25-hydroxyvitamin D (25(OH)D) and other biochemical markers.
  • Assessed muscle function using Leonardo Mechanography Ground Reaction Force Platform (GRFP) for jump power, force, and height.

Main Results:

  • No significant difference in serum 25(OH)D levels between NF1 children and siblings.
  • NF1 children exhibited significantly lower relative jump power (P=0.054) and force (P<0.0001) compared to controls.
  • Jumping parameters were not correlated with 25(OH)D concentrations.

Conclusions:

  • Vitamin D status is not significantly associated with NF1 status in children.
  • Children with NF1 demonstrate impaired muscle power and force compared to their unaffected siblings.
  • These findings highlight a potential non-vitamin D related deficit in muscle function in NF1.
Abstract

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