Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study
Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study
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.
Aerobic capacity, Glycogen storage disease type IIIa, Maximum voluntary contraction, Skeletal muscle
Hennis, Philip J
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Murphy, Elaine
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Meijer, Rick I
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Lachmann, Robin H
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Ramachandran, Radha
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Bordoli, Claire
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Rayat, Gurinder
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Tomlinson, David J
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31 January 2022
Hennis, Philip J
b3563308-2f8e-49fb-a73f-c5afcc177ffe
Murphy, Elaine
5b92c4cb-cd61-4712-ba28-20a00104f40c
Meijer, Rick I
da90218c-a06b-44d7-a7bb-423cfd8a10a6
Lachmann, Robin H
8387379e-0ed9-4cf2-a6dc-997e6abb1847
Ramachandran, Radha
31d35eab-8b2e-45e0-94ec-1c6a26615084
Bordoli, Claire
39dd011d-a6d5-4d67-b61a-538547c3322d
Rayat, Gurinder
1a9c0c8a-d6a3-4467-878e-20486bb5ca8c
Tomlinson, David J
b4c7ff97-13dd-40e5-a23c-ee5413fbd6cb
Hennis, Philip J, Murphy, Elaine, Meijer, Rick I, Lachmann, Robin H, Ramachandran, Radha, Bordoli, Claire, Rayat, Gurinder and Tomlinson, David J
(2022)
Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.
Orphanet Journal of Rare Diseases, 17 (1), [28].
(doi:10.1186/s13023-022-02184-1).
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.
Text
s13023-022-02184-1
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More information
Accepted/In Press date: 20 January 2022
Published date: 31 January 2022
Additional Information:
This work was supported by the Association for Glycogen Storage Disease-UK (AGSG-UK). This work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres' funding scheme.
Keywords:
Aerobic capacity, Glycogen storage disease type IIIa, Maximum voluntary contraction, Skeletal muscle
Identifiers
Local EPrints ID: 456262
URI: http://eprints.soton.ac.uk/id/eprint/456262
ISSN: 1750-1172
PURE UUID: 073f6e88-c7ff-4258-a842-91243920e030
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Date deposited: 27 Apr 2022 00:34
Last modified: 16 Mar 2024 16:38
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Author:
Philip J Hennis
Author:
Elaine Murphy
Author:
Rick I Meijer
Author:
Robin H Lachmann
Author:
Radha Ramachandran
Author:
Claire Bordoli
Author:
Gurinder Rayat
Author:
David J Tomlinson
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