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

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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.

Original languageEnglish
Pages (from-to)133-142
Number of pages10
JournalUltrasound in Medicine and Biology
Issue number1
Publication statusPublished - 1 Jan 2016


  • Adult
  • Child
  • Echogenicity
  • Electromyography
  • Glycogen
  • Glycogen storage disease
  • Muscle force
  • Muscle ultrasound density
  • Myopathy

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