Glycogenosis type II is a progressive, multisystemic and often disabling disorder that affects patients' quality of life and survival. Traditionally, three clinical forms of the disease have been classified based on age of symptoms onset: classic infantile-onset, non-classic infantile-onset and late-onset. A correct management of glycogenosis type II patients requires early intervention by a multidisciplinary team with different specialists involved. In this contest, pulmonologists play a crucial role especially in late-onset glycogenosis type II, opening a complete new scenario for them with the management of new, "unknown" patients. Thus, finding a unique approach for the diagnosis, treatment and management of glycogenosis type II patients, involving both neurologists and pulmonologists, becomes of paramount importance. Expected results of this approach should be: highly specific, non invasive and inexpensive diagnostic tools, modern rehabilitation programs, proper management of emergencies and proper chronic care. In addition, new outcomes based on patients and family satisfaction and on the reduction of hospitalization complications should be sought. Here, we present the main concepts on the diagnosis, treatment and management of glycogenosis type II and we suggest a possible collaborative approach for neurologists and pulmonologists.

Multidisciplinary neurological and pneumological management of patients with glycogenosis type II

Filosto M.
2010-01-01

Abstract

Glycogenosis type II is a progressive, multisystemic and often disabling disorder that affects patients' quality of life and survival. Traditionally, three clinical forms of the disease have been classified based on age of symptoms onset: classic infantile-onset, non-classic infantile-onset and late-onset. A correct management of glycogenosis type II patients requires early intervention by a multidisciplinary team with different specialists involved. In this contest, pulmonologists play a crucial role especially in late-onset glycogenosis type II, opening a complete new scenario for them with the management of new, "unknown" patients. Thus, finding a unique approach for the diagnosis, treatment and management of glycogenosis type II patients, involving both neurologists and pulmonologists, becomes of paramount importance. Expected results of this approach should be: highly specific, non invasive and inexpensive diagnostic tools, modern rehabilitation programs, proper management of emergencies and proper chronic care. In addition, new outcomes based on patients and family satisfaction and on the reduction of hospitalization complications should be sought. Here, we present the main concepts on the diagnosis, treatment and management of glycogenosis type II and we suggest a possible collaborative approach for neurologists and pulmonologists.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11379/535392
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