Breathing Pattern and Central Ventilatory Drive in Late-Onset Pompe Disease.

Pompe disease is an autosomal recessive disorder characterized by acid alpha-glucosidase (GAA) defi ciency that results in intralysosomal glycogen accumulation affecting skeletal muscles with more specifi c impairment of proximal limb, trunk, and respiratory muscles. Pulmonary symptoms may represent one of the initial manifestations of late-onset Pompe disease (LOPD) in patients, even those still ambulating, and may include exertional dyspnea, sleep disordered breathing, impaired cough, and chronic respiratory insuffi ciency. LOPD respiratory disturbances have commonly been attributed to muscle defi ciency, mostly diaphragmatic. Since glycogen accumulation has been documented in the peripheral nerves (i.e. the phrenic nerve) and the central nervous system (brainstem and spinal motoneurons), either in patients or in animal models, a potential neural respiratory control dysfunction has also been postulated. The aim of this study was to determine the breathing pattern and central ventilatory drive in patients with LOPD to better understand the pathophysiology of their respiratory impairment.