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.

Additional Metadata
Persistent URL dx.doi.org/10.1007/s10545-011-9396-3, hdl.handle.net/1765/33611
Citation
van der Beek, N.A.M.E, Verschuure, H, Reuser, A.J.J, van der Ploeg, A.T, van Doorn, P.A, & Poublon, R.M.L. (2011). Hearing in adults with Pompe disease. Journal of Inherited Metabolic Disease, 1–7. doi:10.1007/s10545-011-9396-3