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

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• 作者：Renate J. Verbeek^&lowast ; ; Christiaan P. Sentner^&dagger ; ; G. Peter A. Smit^&dagger ; ; Natasha M. Maurits^&lowast ; ; Terry G.J. Derks^&dagger ; ; Johannes H. van der Hoeven^&lowast ; ; Deborah A. Sival^&dagger ; ; ^{d.a.sival@umcg.nl" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Glycogen storage disease ; Muscle ultrasound density ; Muscle force ; Electromyography ; Myopathy ; Echogenicity ; Glycogen ; Child ; Adult
• 刊名：Ultrasound in Medicine & Biology
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：42
• 期：1
• 页码：133-142
• 全文大小：680 K

文摘

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.