Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III.

Autor:	Verbeek RJ; Department of Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands., Sentner CP; Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands., Smit GP; Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands., Maurits NM; Department of Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands., Derks TG; Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands., van der Hoeven JH; Department of Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands., Sival DA; Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands. Electronic address: d.a.sival@umcg.nl.
Jazyk:	angličtina
Zdroj:	Ultrasound in medicine & biology [Ultrasound Med Biol] 2016 Jan; Vol. 42 (1), pp. 133-42. Date of Electronic Publication: 2015 Oct 03.
DOI:	10.1016/j.ultrasmedbio.2015.08.013
Abstrakt:	In glycogen storage diseases (GSDs), improved longevity has resulted in the need for neuromuscular surveillance. In 12 children and 14 adults with the "hepatic" (GSD-I) and "myopathic" (GSD-III) phenotypes, we cross-sectionally assessed muscle ultrasound density (MUD) and muscle force. Children with both "hepatic" and "myopathic" GSD phenotypes had elevated MUD values (MUD Z-scores: GSD-I > 2.5 SD vs. GSD-III > 1 SD, p < 0.05) and muscle weakness (GSD-I muscle force; p < 0.05) of myopathic distribution. In "hepatic" GSD-I adults, MUD stabilized (GSD-I adults vs. GSD-I children, not significant), concurring with moderate muscle weakness (GSD-I adults vs. healthy matched pairs, p < 0.05). In "myopathic" GSD-III adults, MUD increased with age (MUD-GSD III vs. age: r = 0.71-0.83, GSD-III adults > GSD-III children, p < 0.05), concurring with pronounced muscle weakness (GSD-III adults vs. GSD-I adults, p < 0.05) of myopathic distribution. Children with "hepatic" and "myopathic" GSD phenotypes were both found to have myopathy. Myopathy stabilizes in "hepatic" GSD-I adults, whereas it progresses in "myopathic" GSD-III adults. Muscle ultrasonography provides an excellent, non-invasive tool for neuromuscular surveillance per GSD phenotype. (Copyright © 2016 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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