title: Management and treatment of glycogenosis type II.
abstract: 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.affiliation: Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia of Udine, Udine, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Bembi
authors.forename: E
authors.initials: E
authors.lastname: Cerini
authors.forename: C
authors.initials: C
authors.lastname: Danesino
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: S
authors.initials: S
authors.lastname: Gasperini
authors.forename: L
authors.initials: L
authors.lastname: Morandi
authors.forename: O
authors.initials: O
authors.lastname: Musumeci
authors.forename: G
authors.initials: G
authors.lastname: Parenti
authors.forename: S
authors.initials: S
authors.lastname: Ravaglia
authors.forename: F
authors.initials: F
authors.lastname: Seidita
authors.forename: A
authors.initials: A
authors.lastname: Toscano
authors.forename: A
authors.initials: A
authors.lastname: Vianello
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D009202:Cardiomyopathies / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D015316:Genetic Therapy / Q000379:methods / Q000639:trends; D006009:Glycogen Storage Disease Type II / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D054792:Muscle, Striated / Q000378:metabolism / Q000503:physiopathology; D009135:Muscular Diseases / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D010348:Patient Care Team / Q000592:standards; D012133:Respiratory Paralysis / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D000520:alpha-Glucosidases / Q000172:deficiency / Q000235:genetics
chemical_list: D000520:alpha-Glucosidases