Korean J Clin Neurophysiol.  2014 Dec;16(2):81-85. 10.14253/kjcn.2014.16.2.81.

A Case of Adult Onset Glycogen Storage Myopathy

• Shin JH
• Kim DG
• Shin JY
• Park SH
• Lee KW

• KMID: 1737970
• DOI: http://doi.org/10.14253/kjcn.2014.16.2.81

Abstract

Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogen storage disease is a disease caused by genetic mutations involved in glycogen synthesis, glycogenolysis or glycolysis. Several types of glycogen storage disease are known to cause metabolic myopathies. We report a case of adult onset metabolic myopathy with glycogen storage.

Keyword

Myopathy; Glycogen storage disease; Metabolic myopathy

MeSH Terms

Adult*
Glycogen Storage Disease
Glycogen*
Glycogenolysis
Glycolysis
Humans
Muscular Diseases*
Glycogen

Figure

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  Figure 1. Axial T1 image of Muscle MRI (3.0 T). Left upper arm (A) and left thigh (B) showed no definite atrophy or fat accumulation. MRI; magnetic resonance image.

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  Figure 2. (A, B) Light microscopic findings of biopsied muscle. Mild size variation of muscle fibers and some sub-sarcolemmar vacuoles are observed, annotated with arrows (A: Hematoxylin eosin stain ×200. B: PAS stain, ×400). (C, D) Electron microscopic findings of biopsied muscle. Glycogen particles and fat vacuoles are accumulated in subsarcolemmal and sarcomeric areas (×2,000).

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