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Management and treatment 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, I.R.C.C.S. San Matteo, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy cidi{at}unipv.it

Glycogenosis type II is a multisystem disorder that requires management by a multidisciplinary team. The team should include several specialists, such as a metabolic disease specialist or biochemical geneticist, cardiologist, pulmonologist, neurologist, neuromuscular specialist, intensivist, orthopedist, respiratory therapist, physical therapist, occupational therapist, otolaryngologist speech therapist, audiologist, genetic counselor, and a metabolic dietician, who, as a team, will be capable of addressing the different manifestations of the condition. Aspects of functional assessment, rehabilitation, nutritional management, care coordination, nursing, genetic counseling, prenatal diagnosis, and screening are discussed in this article. In addition, treatment of glycogenosis type II is reviewed with attention to emerging therapeutic options.

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

This supplement was made possible by an educational grant from Genzyme.

Disclosure: 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.

Neurology® supplements are not peer-reviewed. Information contained in Neurology® supplements represents the opinions of the authors. These opinions are not endorsed by nor do they reflect the views of the American Academy of Neurology, Editor-in-Chief, or Associate Editors of Neurology®.