title: Hearing in adults with Pompe disease.
abstract: Hearing loss has been recognized as an important cause of morbidity in infants with Pompe disease, a metabolic disorder caused by deficiency of acid α-glucosidase. It is unknown whether hearing is also affected in adult Pompe patients. We have studied the prevalence, severity, and type of hearing loss in 58 adult patients using tympanometry and pure-tone audiometry. Compared to normative data (International Organisation for Standardisation standard 7029), 72% of patients had impaired hearing thresholds at one or more frequencies in at least one ear. All measured frequencies were equally affected. All patients had a sensorineural type of hearing loss, pointing to cochlear or retrocochlear pathology. Categorised according to the standards of the World Health Organisation 21% of patients had a clinically relevant hearing loss (16% slight, 3% moderate, 2% profound). Though this suggests that hearing loss occurs in a considerable number of patients with Pompe disease, this prevalence is similar to that in the general population. Therefore, we conclude that hearing loss is not a specific feature of Pompe disease in adults.
authors: Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, 's-Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands. n.beek@erasmusmc.nl
authors: Nadine A M E
authors: NA
authors: van der Beek
authors: Hans
authors: H
authors: Verschuure
authors: Arnold J J
authors: AJ
authors: Reuser
authors: Ans T
authors: AT
authors: van der Ploeg
authors: Pieter A
authors: PA
authors: van Doorn
authors: René M L
authors: RM
authors: Poublon
mesh_terms: D000158:Acoustic Impedance Tests / Q000379:methods; D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone / Q000379:methods; D001309:Auditory Threshold / Q000502:physiology; D015331:Cohort Studies; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D000520:alpha-Glucosidases / Q000235:genetics
chemical_list: D000520:alpha-Glucosidases