Management and treatment of glycogenosis type II.

B. Bembi, E. Cerini, C. Danesino, M. A. Donati, S. Gasperini, L. Morandi, O. Musumeci, G. Parenti, S. Ravaglia, F. Seidita, A. Toscano, A. Vianello

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
JournalNeurology
Volume71
Issue number23 Suppl 2
DOIs
Publication statusPublished - Dec 2 2008

ASJC Scopus subject areas

  • Clinical Neurology

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