Ontology type: schema:ScholarlyArticle Open Access: True
2019-12
AUTHORSJulia R. Dahlqvist, Sofie T. Oestergaard, Nanna S. Poulsen, Kirsten Lykke Knak, Carsten Thomsen, John Vissing
ABSTRACTSpinobulbar muscular atrophy (SBMA) is caused by a trinucleotide repeat expansion in the androgen receptor gene on the X chromosome. There is a toxic effect of the mutant receptor on muscle and neurons resulting in muscle weakness and atrophy. The weakness can be explained by wasting due to loss of muscle cells, but it is unknown whether weakness also relates to poor muscle contractility of the remaining musculature. In this study, we investigated the muscle contractility in SBMA. We used stationary dynamometry and quantitative MRI to assess muscle strength and absolute and fat-free, cross-sectional areas. Specific muscle force (strength per cross-sectional area) and contractility (strength per fat-free cross-sectional area) were compared with healthy controls and their relation to walking distance and disease severity was investigated. Specific force was reduced by 14-49% in SBMA patients compared to healthy controls. Contractility was reduced by 22-39% in elbow flexion, knee extension, ankle dorsi- and plantarflexion in SBMA patients. The contractility decreased with increasing muscle fat content in muscles with affected contractility in SBMA. The decreased muscle contractility in SBMA may relate to motor neuron degeneration and changed fibre type distribution and muscle architecture. More... »
PAGES4680
http://scigraph.springernature.com/pub.10.1038/s41598-019-41240-y
DOIhttp://dx.doi.org/10.1038/s41598-019-41240-y
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