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 p p r  = 0.71–0.83, GSD-III adults > GSD-III children, p p