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

Verbeek, R. J., Sentner, C. P., Smit, G. P. A., Maurits, N. M., Derks, T. G. J., van der Hoeven, J. H. & Sival, D. A., Jan-2016, In : Ultrasound in Medicine and Biology. 42, 1, p. 133-142 10 p.

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

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

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


  • Glycogen storage disease, Muscle ultrasound density, Muscle force, Electromyography, Myopathy, Echogenicity, Glycogen, Child, Adult, SPINA-BIFIDA APERTA, NEUROMUSCULAR DISORDERS, DEBRANCHER DEFICIENCY, DIETARY-MANAGEMENT, REFERENCE VALUES, CHILDREN, SKELETAL, MYELOMENINGOCELE, INVOLVEMENT, MYOPATHY

ID: 35304689