Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa

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• 作者：Jeffrey J. Horvath^a ; Stephanie L. Austin^b ; Harrison N. Jones^c ; Elizabeth J. Drake^b ; Laura E. Case^d ; Brian J. Soher^a ; Mustafa R. Bashir^a ; Priya S. Kishnani^b ; ^{kishn001@mc.duke.edu}
• 关键词：GDE ; Glycogen Debranching Enzyme ; GSD ; Glycogen Storage Disease ; IOPI ; Iowa Oral Performance Instrument ; MRI ; Magnetic Resonance Imaging
• 刊名：Molecular Genetics and Metabolism
• 出版年：2012
• 出版时间：November, 2012
• 年：2012
• 卷：107
• 期：3
• 页码：496-500
• 全文大小：475 K

文摘

Glycogen storage disorder type III (GSD III) is a rare autosomal recessive disorder resulting from a deficiency of glycogen debranching enzyme, critical in cytosolic glycogen degradation. GSD IIIa, the most common form of GSD III, primarily affects the liver, cardiac muscle, and skeletal muscle. Although skeletal muscle weakness occurs commonly in GSD IIIa, bulbar muscle involvement has not been previously reported. Here we present three GSD IIIa patients with clinical evidence of bulbar weakness based on instrumental assessment of lingual strength. Dysarthria and/or dysphagia, generally mild in severity, were evident in all three individuals. One patient also underwent correlative magnetic resonance imaging (MRI) which was remarkable for fatty infiltration at the base of the intrinsic tongue musculature, as well as abnormal expansion of the fibro-fatty lingual septum. Additionally, we provide supportive evidence of diffuse glycogen infiltration of the tongue at necropsy in a naturally occurring canine model of GSD IIIa. While further investigation in a larger group of patients with GSD III is needed to determine the incidence of bulbar muscle involvement in this condition and whether it occurs in GSD IIIb, clinical surveillance of lingual strength is recommended.