title: 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.
authors.affiliation: Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy;
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.affiliation: Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy;
authors.forename: Alice
authors.initials: A
authors.lastname: Todeschini
authors.affiliation: Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy;
authors.forename: Maria Sofia
authors.initials: MS
authors.lastname: Cotelli
authors.affiliation: Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy;
authors.forename: Valentina
authors.initials: V
authors.lastname: Vielmi
authors.affiliation: Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy;
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Rinaldi
authors.affiliation: Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy;
authors.forename: Silvia
authors.initials: S
authors.lastname: Rota
authors.affiliation: Clinical Neurology, Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Scarpelli
authors.affiliation: Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy;
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
mesh_terms: D017668:Age of Onset; D001847:Bone Diseases / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D018450:Disease Progression; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D009422:Nervous System Diseases / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D010641:Phenotype; D011379:Prognosis; D014652:Vascular Diseases / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D000520:alpha-Glucosidases / Q000172:deficiency / Q000235:genetics
chemical_list: D006003:Glycogen; D000520:alpha-Glucosidases
keywords: GSDII; Glycogenosis II; Pompe disease