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

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)%

SUBMITTER: Hennis PJ 

PROVIDER: S-EPMC8802498 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature