title: Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III.
abstract: 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.
authors.affiliation: Department of Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands.
authors.forename: Renate J
authors.initials: RJ
authors.lastname: Verbeek
authors.affiliation: Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands.
authors.forename: Christiaan P
authors.initials: CP
authors.lastname: Sentner
authors.affiliation: Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands.
authors.forename: G Peter A
authors.initials: GP
authors.lastname: Smit
authors.affiliation: Department of Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands.
authors.forename: Natasha M
authors.initials: NM
authors.lastname: Maurits
authors.affiliation: Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands.
authors.forename: Terry G J
authors.initials: TG
authors.lastname: Derks
authors.affiliation: Department of Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands.
authors.forename: Johannes H
authors.initials: JH
authors.lastname: van der Hoeven
authors.affiliation: Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands. Electronic address: d.a.sival@umcg.nl.
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Sival
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000000981:diagnostic imaging / Q000503:physiopathology*; D006010:Glycogen Storage Disease Type III / Q000000981:diagnostic imaging / Q000503:physiopathology*; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000000981:diagnostic imaging / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D014463:Ultrasonography
keywords: Adult; Child; Echogenicity; Electromyography; Glycogen; Glycogen storage disease; Muscle force; Muscle ultrasound density; Myopathy