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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2022

Open Access 01-12-2022 | Research

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study

Authors: Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat, David J. Tomlinson

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

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Abstract

Background

Individuals with glycogen storage disease IIIa (GSD IIIa) (OMIM #232400) experience muscle weakness and exercise limitation that worsen through adulthood. However, normative data for markers of physical capacity, such as strength and cardiovascular fitness, are limited. Furthermore, the impact of the disease on muscle size and quality is unstudied in weight bearing skeletal muscle, a key predictor of physical function. We aim to produce normative reference values of aerobic capacity and strength in individuals with GSD IIIa, and to investigate the role of muscle size and quality on exercise impairment.

Results

Peak oxygen uptake (V̇O2peak) was lower in the individuals with GSD IIIa than predicted based on demographic data (17.0 (9.0) ml/kg/min, 53 (24)% of predicted, p = 0.001). Knee extension maximum voluntary contraction (MVC) was also substantially lower than age matched predicted values (MVC: 146 (116) Nm, 57% predicted, p = 0.045), though no difference was found in MVC relative to body mass (1.88 (2.74) Nm/kg, 61% of predicted, p = 0.263). There was a strong association between aerobic capacity and maximal leg strength (r = 0.920; p = 0.003). Substantial inter-individual variation was present, with a high physical capacity group that had normal leg strength (MVC), and relatively high V̇O2peak, and a low physical capacity that display impaired strength and substantially lower V̇O2peak. The higher physical capacity sub-group were younger, had larger Vastus Lateralis (VL) muscles, greater muscle quality, undertook more physical activity (PA), and reported higher health-related quality of life.

Conclusions

V̇O2peak and knee extension strength are lower in individuals with GSD IIIa than predicted based on their demographic data. Patients with higher physical capacity have superior muscle size and structure characteristics and higher health-related quality of life, than those with lower physical capacity. This study provides normative values of these important markers of physical capacity.
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Metadata
Title
Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study
Authors
Philip J. Hennis
Elaine Murphy
Rick I. Meijer
Robin H. Lachmann
Radha Ramachandran
Claire Bordoli
Gurinder Rayat
David J. Tomlinson
Publication date
01-12-2022
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2022
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-022-02184-1

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