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

Renate J. Verbeek, Christiaan P. Sentner, G. Peter A. Smit, Natasha M. Maurits, Terry G. J. Derks, Johannes H. van der Hoeven, Deborah A. Sival*

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

14 Citaten (Scopus)

Samenvatting

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. (C) 2016 World Federation for Ultrasound in Medicine & Biology.

Originele taal-2English
Pagina's (van-tot)133-142
Aantal pagina's10
TijdschriftUltrasound in Medicine and Biology
Volume42
Nummer van het tijdschrift1
DOI's
StatusPublished - jan.-2016

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