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Hennis, P.J. 
ORCID: 0000-0002-8216-998X, Murphy, E., Meijer, R.I., Lachmann, R.H., Ramachandran, R., Bordoli, C., Rayat, G. and Tomlinson, D.J.,
2022.
Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.
Orphanet Journal of Rare Diseases, 17: 28.
ISSN 1750-1172
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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.
| Item Type: | Journal article | ||||||
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| Publication Title: | Orphanet Journal of Rare Diseases | ||||||
| Creators: | Hennis, P.J., Murphy, E., Meijer, R.I., Lachmann, R.H., Ramachandran, R., Bordoli, C., Rayat, G. and Tomlinson, D.J. | ||||||
| Publisher: | Springer Science and Business Media LLC | ||||||
| Date: | 2022 | ||||||
| Volume: | 17 | ||||||
| ISSN: | 1750-1172 | ||||||
| Identifiers: |
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| Rights: | © The Author(s) 2022. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. | ||||||
| Divisions: | Schools > School of Science and Technology | ||||||
| Record created by: | Laura Ward | ||||||
| Date Added: | 28 Mar 2022 10:46 | ||||||
| Last Modified: | 26 Apr 2022 10:24 | ||||||
| URI: | https://irep.ntu.ac.uk/id/eprint/45983 |
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