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

Ultrasound Med Biol. 2016 Jan;42(1):133-42. doi: 10.1016/j.ultrasmedbio.2015.08.013. Epub 2015 Oct 3.


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.

Keywords: Adult; Child; Echogenicity; Electromyography; Glycogen; Glycogen storage disease; Muscle force; Muscle ultrasound density; Myopathy.

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Female
  • Glycogen Storage Disease Type I / diagnostic imaging
  • Glycogen Storage Disease Type I / physiopathology*
  • Glycogen Storage Disease Type III / diagnostic imaging
  • Glycogen Storage Disease Type III / physiopathology*
  • Humans
  • Male
  • Muscle Weakness / diagnostic imaging
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / diagnostic imaging*
  • Muscle, Skeletal / physiopathology*
  • Ultrasonography