Introduction:

Respiratory compromise in Pompe disease is one of the most frequent manifestations, which has a negative impact on quality of life and leads to multiple complications. This can occur as an evolutionary part of the disease, or even be the initial symptom of the pathology.

Contents:

Its clinical presentation is characterized by dyspnea, orthopnea, headache, and cough, and its paraclinical changes include hypercapnia, polycythemia, elevated apnea/hypopnea index, decreased vital capacity, and decreased maximum inspiratory and expiratory pressures. Respiratory compromise is caused mainly by muscular dysfunction (especially the diaphragm) and alteration of regulation of the central nervous system.

Conclusions:

An initial careful assessment of respiratory patterns is essential, and of course their follow-up, that will depend of the type of progression of respiratory dysfunction (rapid or slow) or the specific requirement for each patient (non-invasive or invasive ventilation).

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