title: The role of respiratory management of Pompe disease.
abstract: Respiratory failure is an unavoidable event in the natural history of some neuromuscular diseases, while appearing very infrequently in others. In some cases, such as Pompe disease, respiratory failure progresses more rapidly than motor impairment, sometimes being the onset event. Home mechanical ventilation improves survival and quality of life of these patients, with a reduction in healthcare costs. Therefore, pulmonologists must improve their skills in order to play a more relevant role in the care of these patients. The aim of this statement is to provide pulmonologists with some simple information in order for them to fulfil their role of primary caregiver, enabling appropriate and rapid diagnosis and treatment.
authors.affiliation: U.O. Pneumologia e Terapia Intensiva Respiratoria, Dipartimento Cardio-Toraco-Vascolare, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy. nico.ambrosino@gmail.com
authors.forename: Nicolino
authors.initials: N
authors.lastname: Ambrosino
authors.forename: Marco
authors.initials: M
authors.lastname: Confalonieri
authors.forename: Grazia
authors.initials: G
authors.lastname: Crescimanno
authors.forename: Andrea
authors.initials: A
authors.lastname: Vianello
authors.forename: Michele
authors.initials: M
authors.lastname: Vitacca
mesh_terms: D003371:Cough / Q000503:physiopathology; D004417:Dyspnea / Q000209:etiology / Q000628:therapy; D042241:Early Diagnosis; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis / Q000628:therapy*; D006801:Humans; D007400:Interprofessional Relations; D008134:Long-Term Care; D009462:Neurology / Q000458:organization & administration; D010347:Patient Care Planning; D010348:Patient Care Team / Q000458:organization & administration; D015272:Pulmonary Medicine / Q000458:organization & administration; D012121:Respiration, Artificial / Q000379:methods; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D014139:Tracheostomy / Q000379:methods
keywords: Dyspnoea; Mechanical ventilation; Neuromuscular diseases; Pompe disease; Respiratory failure