Skip to main content
Journal cover image

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

Publication ,  Journal Article
Horvath, JJ; Austin, SL; Jones, HN; Drake, EJ; Case, LE; Soher, BJ; Bashir, MR; Kishnani, PS
Published in: Mol Genet Metab
November 2012

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.

Duke Scholars

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

November 2012

Volume

107

Issue

3

Start / End Page

496 / 500

Location

United States

Related Subject Headings

  • Tongue
  • Mutation
  • Muscle, Skeletal
  • Muscle Weakness
  • Middle Aged
  • Humans
  • Glycogen Storage Disease Type III
  • Glycogen Debranching Enzyme System
  • Glycogen
  • Genetics & Heredity
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Horvath, J. J., Austin, S. L., Jones, H. N., Drake, E. J., Case, L. E., Soher, B. J., … Kishnani, P. S. (2012). Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa. Mol Genet Metab, 107(3), 496–500. https://doi.org/10.1016/j.ymgme.2012.09.025
Horvath, Jeffrey J., Stephanie L. Austin, Harrison N. Jones, Elizabeth J. Drake, Laura E. Case, Brian J. Soher, Mustafa R. Bashir, and Priya S. Kishnani. “Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.Mol Genet Metab 107, no. 3 (November 2012): 496–500. https://doi.org/10.1016/j.ymgme.2012.09.025.
Horvath JJ, Austin SL, Jones HN, Drake EJ, Case LE, Soher BJ, et al. Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa. Mol Genet Metab. 2012 Nov;107(3):496–500.
Horvath, Jeffrey J., et al. “Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.Mol Genet Metab, vol. 107, no. 3, Nov. 2012, pp. 496–500. Pubmed, doi:10.1016/j.ymgme.2012.09.025.
Horvath JJ, Austin SL, Jones HN, Drake EJ, Case LE, Soher BJ, Bashir MR, Kishnani PS. Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa. Mol Genet Metab. 2012 Nov;107(3):496–500.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

November 2012

Volume

107

Issue

3

Start / End Page

496 / 500

Location

United States

Related Subject Headings

  • Tongue
  • Mutation
  • Muscle, Skeletal
  • Muscle Weakness
  • Middle Aged
  • Humans
  • Glycogen Storage Disease Type III
  • Glycogen Debranching Enzyme System
  • Glycogen
  • Genetics & Heredity