Obstructive sleep apnea in late-onset Pompe disease treated by enzyme replacement therapy

Pompe disease (PD), also known as glycogen-storage disease type II or acid-maltase deficiency, is an orphan disease characterized by deficient acid alfa-glucosidase (GAA) enzyme activity, resulting in a metabolic myopathy from the accumulation of intracellular glycogen [1]. The estimated incidence ranges from 1 in 40,000 to 1 in 300,000 live births and varies with region and race [2]. Of the many complications of the late-onset form of PD (LOPD), obstructive sleep apnea (OSA) is relatively common with studies showing prevalence rates of approximately 20% [3].
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Case report Source Type: research