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Diagnosis of glycogenosis type II

Authors’ affiliations are listed at the end of this article.
AUTHORS’ AFFILIATIONS Regional Coordination Centre for Rare Diseases, (B.B.), University Hospital Santa Maria della Misericordia of Udine, Udine; Department of Neonatal Pathology (E.C.), Hospital of Mantua, Mantua; General Biology and Medical Genetics (C.D.), IRCCS S. Matteo and University of Pavia, Pavia; Metabolic and Muscular Unit (M.A.D., S.G.), Meyer Children’s Hospital, Florence; Muscle Pathology and Neuroimmunology Unit (L.M.), Fondazione IRCCS Istituto Neurologico "Carlo Besta"; Department of Neurosciences (O.M., A.T.), Psychiatry and Anaesthesiology, University of Messina, Messina; Department of Pediatrics and Telethon Institute of Genetics and Medicine (G.P.), Federico II University, Naples; Department of Neurological Sciences (S.R.), Institute of Neurology "C. Mondino," University of Pavia, Pavia; Associazione Italiana Glicogenosi (F.S.); Respiratory Pathophysiology Unit (A.V.), University-City Hospital of Padova, Italy.

Address correspondence and reprint requests to Dr. Cesare Danesino, General Biology and Medical Genetics, IRCCS San Matteo, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy cidi{at}unipv.it

The diagnosis of glycogenosis type II is often complicated by the rarity of the condition and the heterogeneity of the clinical manifestations of the disease. It is a progressive, debilitating, and often fatal neuromuscular disorder that manifests as a continuum of clinical phenotypes, which vary with respect to organ involvement, age at onset, and severity. Early diagnosis requires both increased awareness among physicians regarding the clinical characteristics of the disease and fast and reliable acid alpha-glucosidase (GAA) enzyme activity assays to confirm the GAA deficiency. The clinical diagnosis of glycogenosis type II is confirmed by virtual absence (found in infants) and marked reduced activity (found in juveniles and adults) of GAA enzyme in blood samples, cultured fibroblasts, and muscle biopsies. This article specifically highlights the need for early recognition of the clinical manifestation of the disease in infants, juveniles, and adults. Descriptions of the main clinical features of the condition, as well as differential diagnosis are included. In addition, the tests required for a confirmed diagnosis are described, and use of muscle imaging to evaluate muscle pathology is reviewed.

Authors are listed in alphabetical order. All authors contributed equally to this work.

This supplement was made possible by an educational grant from Genzyme

Disclosures: E. Cereni has received grants and honoraria from Genzyme., S. Ravaglia and A. Vianello have both received honoraria from Genzyme. The other authors report no disclosures.

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