Abstract

LEMUS-BARRIOS, Gustavo Alexis  and  SALDARRIAGA-RIVERA, Lina María. Adult Pompe disease: Report of a case as a differential diagnosis of inflammatory myopathy. Rev.Colomb.Reumatol. [online]. 2019, vol.26, n.1, pp.58-62. ISSN 0121-8123.

Pompe disease, or glycogen storage disease type II, is an autosomal recessive disorder due to the deficiency of lysosomal acid α-glucosidase, the enzyme responsible for degrading glycogen to glucose. The adult-onset form is rare and is characterized, primarily by accumulation of glycogen in striated, cardiac, and smooth muscle tissue. It causes muscle weakness of proximal predominance, so it can be confused with an inflammatory myopathy. The case is presented of a 60 year-old adult with a previous diagnosis of polymyositis in whom Pompe disease was confirmed with a demonstration of the enzymatic deficit in a biological substrate and a genetic identification was obtained.

Keywords : Late onset Pompe disease; Adult; Polymyositis.

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