Table 2.

Treatment recommendations for the respiratory element of late-onset Pompe disease.

Involve a pulmonologist experienced in managing patients with neuromuscular diseases Up-to-date vaccinations, including vaccination against pneumococcus and influenza Early and aggressive treatment of bacterial and viral infections Clear secretions from airways (e.g., cough assist device, suction) Train/educate patients and families to use assisted cough and inspiratory muscle techniques Treat sleep-disordered breathing with continuous positive airway pressure (CPAP) or bilevel nocturnal noninvasive ventilation (BiPAP) In the absence of sleep studies, consider BiPAP ventilation if arterial PCO2 is ≥45 mm Hg, supine forced vital capacity is <50% of predicted, negative inspiratory force is <60 cm H2O, or oxygen saturation falls to <88% for 5 continuous minutes during sleep Treat concomitant conditions, such as asthma or cardiomyopathy Consider enzyme replacement therapy