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Respiratory muscle weakness is the major cause of early death in patients with adult Pompe disease. It first manifests as nocturnal hypercapnia, eventually leading to sleep disruption. Sleep‐related symptoms along with motor performance, forced vital capacity (FVC) and respiratory symptoms were investigated in 65 adult patients with Pompe disease.

Patients answered the Pittsburgh Sleep Quality Index (PSQI), the Epworth Sleepiness Scale, the Fatigue Severity Scale, the Rotterdam Nine‐item Handicap Scale, the SF‐36 health‐related quality of life questionnaire, and a respiratory symptom questionnaire. In all patients, the 6‐min walk test was performed and FVC was obtained. Polysomnography and oxycapnometry results were available in 31 patients.

Sixty patients received enzyme replacement therapy, and 32 individuals were on home ventilatory support …