Respiratory disorders in late-onset Pompe disease: monitoring and management

Pompe disease is a rare inherited disorder characterized by progressive skeletal and respiratory muscle weakness and wasting. Late-onset Pompe disease (LOPD) may develop at any age. Patients with LOPD frequently present with various respiratory disorders, including alveolar hypoventilation, particularly during sleep, bronchopulmonary infections that can provoke acute respiratory failure, obstructive sleep apnoe, impaired bronchial clearance, whereas respiratory failure remains one of the main causes of death of these patients. Enzyme replacement therapy with recombinant acid alpha-glucosidase may prevent progressive impairment of respiratory function. Timely initiation of noninvasive ventilation, respiratory muscle strength training, cough assistance and vaccination against influenza and pneumococcal infections are also essential to prevent life-threatening complications.