Search results for "neuromuscular disease"
showing 3 items of 143 documents
Acute heavy-resistance exercise–induced pain and neuromuscular fatigue in elderly women with fibromyalgia and in healthy controls: Effects of strengt…
2006
Objective To examine heavy-resistance exercise–induced acute neuromuscular fatigue, blood lactate concentration, and muscle pain in elderly women with fibromyalgia (FM) and in healthy controls before and after a period of strength training. Methods Thirteen elderly women with FM (mean ± SD age 60 ± 2 years) and 10 healthy women (mean ± SD age 64 ± 3 years) performed a heavy-resistance fatiguing protocol (5 sets of leg presses with 10 repetitions maximum) before and after a 21-week strength training period. Maximal isometric force and electromyography (EMG) activity of leg extensors and blood lactate concentration were measured during the loading. Pain was assessed by visual analog scale. Re…
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Myoadenylate deaminase deficiency
1987
Myoadenylate deaminase (MAD) is the rate-limiting enzyme in the purine nucleotide cycle which is biochemically linked to glycolysis and the citric cycle and thereby providing energy during intense muscular activity. In muscle fibers, myoadenylate deaminase operates at considerably higher activity levels than in other organs. First detected using enzyme-histochemical methods, it now appears that deficiency of myoadenylate deaminase is one of the most frequent enzyme defects in muscle. The primary defect may occur as an isolated nosological entity or not infrequently it is also associated with a large spectrum of different neuromuscular conditions. It seems to be the primary unassociated MAD …