Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review.

ABSTRACT: Late-onset Pompe disease (LOPD) is a rare autosomal recessive glycogen storage disease that results in accumulation of glycogen in muscle cells causing muscular weakness. It causes a progressive proximal myopathy, accompanied by respiratory muscle weakness, which can lead to ventilatory failure. In untreated LOPD, the most common cause of death is respiratory failure. Patients suffering from respiratory compromise may present with symptoms of sleep-disordered breathing (SDB) before overt signs of respiratory failure. Diaphragm weakness leads to nocturnal hypoventilation, which can result in sleep disruption. Both subjective and objective sleep quality can be impaired with associated excessive daytime sleepiness (EDS). Health-related quality of life worsens as sleep disturbance increases. T

SUBMITTER: Shah NM 

PROVIDER: S-EPMC7642632 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature