The role of respiratory management of Pompe disease

Nicolino Ambrosino, Marco Confalonieri, Grazia Crescimanno, Andrea Vianello, Michele Vitacca

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1124-1132
Number of pages9
JournalRespiratory Medicine
Issue number8
Publication statusPublished - Aug 2013


  • Dyspnoea
  • Mechanical ventilation
  • Neuromuscular diseases
  • Pompe disease
  • Respiratory failure

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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