Pompe disease: distal myopathy in a previously unreported heterozygous variant

Abstract

central apneas and 2/18 a mixed pattern. Of the 9 patients in wheelchair, 3 had an increased RDI. 2/29 with PCO2N53 at the time of the exam. Snoring was present in 7/29(24%), of which two were associated with obstructive events. Mean baseline oxygen saturation was 97% and desaturation b90% present in 13/29(45%) patients. Conclusions:The prevalence of sleep-disordered breathing in children with DMD is relevant. In this study the wheelchair-bound patients didn't experience more respiratory events than patients who maintained ambulation. The number of patients receiving NIV was low.