L'approccio pneumologico alla malattia di Pompe e alle altre malattie neuromuscolari

Translated title of the contribution: Pneumological approach to Pompe disease and other neuromuscular disorders

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

Research output: Contribution to journalArticlepeer-review


Respiratory failure is an unavoidable or very frequent event in the natural history of some neuromuscular diseases, whereas it appears very unfrequently in others. In some cases, like Pompe disease, respiratory failure shows a more rapid worsening compared to motor impairment, sometimes being the onset event. The most frequent respiratory onset manifestation is exercise breathlessness, frequently associated to a history of lung infections. Nevertheless these patients may show a physiological picture of chronic respiratory insufficiency. Home mechanical ventilation improves survival and quality of life of these patients, with a reduction in health care costs. As a consequence pulmonologists must perform a more relevant role in the care of these patients and they must increase their skills for such a task. In Pompe disease mechanical ventilation is started during an episode of Acute Respiratory Failure (ARF) without any previous lung function tests: as a consequence these patients require more frequent physiological evaluations to avoid potentially fatal exacerbations. Therefore a collaboration between pulmonologist and neurologist is mandatory. Respiratory follow-up is aimed to early diagnosis and treatment of respiratory complications. It may differ according to different diagnosis and disease stage. The specific interest for adult onset Pompe disease relies on the aivailability of enzimatic therapy which has been shown to be effective in slowing disease progression. The aim of this statement is to give pulmonologists some simple information in order they can fulfil their role of "main caregiver" with appropriate and quick diagnosis and treatment.

Translated title of the contributionPneumological approach to Pompe disease and other neuromuscular disorders
Original languageItalian
Pages (from-to)315-325
Number of pages11
JournalRassegna di Patologia dell'Apparato Respiratorio
Issue number6
Publication statusPublished - Dec 2012

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pulmonary and Respiratory Medicine


Dive into the research topics of 'Pneumological approach to Pompe disease and other neuromuscular disorders'. Together they form a unique fingerprint.

Cite this