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

AI Article Synopsis

  • * The study found that individuals with GSD IIIa had notably lower peak oxygen uptake (V̇Opeak) and knee extension strength compared to demographic predictions, with only a small correlation when normalized to body mass.
  • * There is considerable variability among patients, with those classified as having higher physical capacity exhibiting better muscle size, quality, and overall quality of life compared to their lower capacity counterparts.

Article 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 (V̇Opeak) 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 V̇Opeak, and a low physical capacity that display impaired strength and substantially lower V̇Opeak. 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: V̇Opeak 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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802498PMC
http://dx.doi.org/10.1186/s13023-022-02184-1DOI Listing

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