Sleep disordered breathing in patients with glycogenosis type II

Introduction: Patients affected by glycogenosis type II, also Pompe disease, are susceptible to the development of sleep disordered breathing. Symptoms suggestive of sleep disordered breathing often can be underestimated. Objective: To evaluate sleep disordered breathing and nocturnal respiratory pattern in patients affected by glycogenosis type II. Methods: We examined in a group of ten patients, affected by glycogenosis type II, adult and juvenile form, the presence of symptoms suggestive of sleep-disordered breathing with a questionnaire. Diurnal respiratory function, diaphragm weakness and nocturnal respiratory pattern were evaluated at the enrolment. In patients presenting sleep disordered breathing, the same parameters were re-evaluated after treatment with assisted non invasive ventilation. Results: Out of 10 patients, 5 presented symptoms suggestive of sleep-disordered breathing at the baseline, 2 a pattern of sleep apnea syndrome and 3 nocturnal hypoventilation. All patients presented diaphragmatic weakness. No correlation was found between forced vital capacity values in sit position and nocturnal respiratory disorders. Five patients with respiratory disorders were treated with non invasive ventilation. All patients – after one month of treatment - showed an improvement in symptoms with reduced diurnal hypersomnia, absence of morning headaches and nocturnal awakenings, and reduced nicturia regardless the modality of ventilation. Conclusions: We suggest that all patients with glycogenosis type II, once diagnosed, are carefully monitored for the development of respiratory involvement, even in the absence of reduced forced vital capacity values and also in the early stages of the disease.