Objectives: Current treatment options for obstructive sleep apnea syndrome often work to the sa-tisfaction of the patient, but in certain cases may not yield the required results for reasons that remain unclear. Late-onset Pompe disease may be a contributing factor in these circumstances. The aim of the present study was to determine the incidence of late-onset Pompe disease in a population diagnosed with obstructive sleep apnea. Material and Methods: The study had a cross-sec- tional, explorative design to assess the prevalence of late-onset Pompe disease in subjects with an established diagnosis of obstructive sleep apnea syndrome. In two different study mid to large size sleep clinics in Europe patients have been asked to donate a blood sample for the detection of ac-id-glucosidase enzyme activity. Results: Of a total of 544 patients with mild to severe obstructive sleep apnea, none had an acid maltase deficiency. Conclusions: Screening for Pompe disease in newly or recently detected OSA patients in mid to large size sleep clinics is not clinically effective. It should be confined to those subjects with OSA when upright forced vital capacity during spirometry is only moderately abnormal, because of the disproportionate diaphragmatic involvement.
Suratt, P.M., Mc Tier, R.F., Findley, L.J., et al. (1987) Upper Airway Muscle Activation Is Augmented in Patients with Obstructive Sleep Apnea Compared with That in Normal Subjects. American Review Respiratory Disease, 137, 889-894. http://dx.doi.org/10.1164/ajrccm/137.4.889
Watanabe, T., Isono, S., Tanaka, A., et al. (2002) Contribution of Body Habitus and Craniofacial Characteristics to Segmental Closing Pressures of the Passive Pharynx in Patients with Sleep-Disordered Breathing. American Journal Respiratory Critical Care Medicine, 165, 260-265. http://dx.doi.org/10.1164/ajrccm.165.2.2009032
Fogel, R.B., Malhotra, A., Pillar, G., et al. (2001) Genioglossal Activation in Patients with Obstructive Sleep Apnea versus Control Subjects. Mechanisms of Muscle Control. American Journal Respiratory Critical Care Medicine, 164, 2025-2030. http://dx.doi.org/10.1164/ajrccm.164.11.2102048
Younes, M. (2003) Contributions of Upper Airway Mechanics and Control Mechanisms to Severity of Obstructive Apnea. American Journal Respiratory Critical Care Medicine, 168, 645-658. http://dx.doi.org/10.1164/rccm.200302-201OC
Winkel, L.P.F., Hagemans, M.L.C., van Doorn, P.A., et al. (2005) The Natural Course of Non-Classic Pompe’s Disease. A Review of 225 Published Cases. Journal of Neurology, 252, 875-884. http://dx.doi.org/10.1007/s00415-005-0922-9
Epstein, L.J., Kristo, D., Strollo, P.J., et al. (2009) Clinical Guideline for the Evaluation, Management and Long-Term Care of Obstructive Sleep Apnea in Adults. Journal of Clinical Sleep Medicine, 5, 263-276.
Lukacs, Z., Cobos, P.N., Mengel, E., et al. (2010) Diagnostic Efficacy of the Fluorometric Determination of Enzyme Activity for Pompe Disease from Dried Blood Specimens Compared with Lymphocytes-Possibility for Newborn Screening. Journal of Inherited Metabolic Disease, 33, 43-50.
Gelb, M.H., Turecek, F., Scott, C.R., et al. (2006) Direct Multiplex Assay of Enzymes in Dried Blood Spots by Tandem Mass Spectrometry for the Newborn Screening of Lysosomal Storage Disorders. Journal of Inherited Metabolic Disease, 29, 397-404. http://dx.doi.org/10.1007/s10545-006-0265-4
Martiniuk, F., Chen, A., Mack, A., et al. (1998) Carrier Frequency for Glycogen Storage Disease Type II in New York and Estimates of Affected Individuals Born with the Disease. American Journal of Medical Genetics, 79, 69-72. http://dx.doi.org/10.1002/(SICI)1096-8628(19980827)79:1<69::AID-AJMG16>3.0.CO;2-K
Müller-Felber, W., Horvath, R., Gempel, K., et al. (2007) Late Onset Pompe Disease: Clinical and Neurophysiological Spectrum of 38 Patients Including Long-Term Follow-Up in 18 Patients. Neuromuscular Disorders, 17, 698-706. http://dx.doi.org/10.1016/j.nmd.2007.06.002
Hagemans, M.L., Winkel, L.P., Hop, W.C., et al. (2005) Disease Severity in Children and Adults with Pompe Disease Related to Age and Disease Duration. Neurology, 64, 2139-2141. http://dx.doi.org/10.1212/01.WNL.0000165979.46537.56