Non-muscle involvement in late-onset Glycogenosis II

Abstract

Glycogenosis II (GSD II) is an autosomal recessive lysosomal storage disorder resulting from acid alpha-glucosidase deficiency, subsequent accumulation of glycogen in tissues, impairment of autophagic processes and progressive cardiac, motor and respiratory failure. The late-onset form is characterized by wide variability in residual enzyme activity, age of onset, rate of disease progression and phenotypical spectrum. Although the pathological process mainly affects the skeletal muscle, several other tissues may be involved in the course of the disease; therefore GSD II should be regarded as a multisystem disorder in which glycogen accumulation is present in skeletal and smooth muscle, heart, brain, liver, spleen, salivary glands, kidney and blood vessels. In this review, we briefly summarize the main non-muscle targets of the pathological process in late-onset GSD II. Further studies aimed at evaluating the extra-muscle involvement in this group of patients will help to better define clinical features and prognostic factors and to delineate the natural history of the disease.

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Cite this paper

@inproceedings{Filosto2013NonmuscleII, title={Non-muscle involvement in late-onset Glycogenosis II}, author={Massimiliano Filosto and Alice Todeschini and Maria Sofia Cotelli and Valentina Vielmi and Fabrizio Rinaldi and Silvia Rota and Mauro Scarpelli and Alessandro Padovani}, booktitle={Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology}, year={2013} }