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

• Published in: Ultrasound in medicine & biology Vol. 42; no. 1; pp. 133 - 142
• Main Authors: Verbeek, Renate J, Sentner, Christiaan P, Smit, G. Peter A, Maurits, Natasha M, Derks, Terry G.J, van der Hoeven, Johannes H, Sival, Deborah A
• Format: Journal Article
• Language: English
• Published: England Elsevier Inc 2016
• Subjects: Adult; Child; Child, Preschool; Cross-Sectional Studies; Echogenicity; Electromyography; Female; Glycogen; Glycogen storage disease; 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 force; Muscle ultrasound density; Muscle Weakness - diagnostic imaging; Muscle Weakness - physiopathology; Muscle, Skeletal - diagnostic imaging; Muscle, Skeletal - physiopathology; Myopathy; Radiology; Ultrasonography; Muscle ultrasound density; Glycogen; Muscle force; Echogenicity; Adult; Glycogen storage disease; Electromyography; Child; Myopathy
• ISSN: 0301-5629; 1879-291X
• DOI: 10.1016/j.ultrasmedbio.2015.08.013

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.