Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences

Abstract

Objective: The metabolic disorder Pompe disease mainly affects the skeletal muscle in adults. The hearing impairment due to stapedius muscle involvement in adult patients is not known. Design: The frequency, severity, and type of hearing impairment was characterized prospectively using pure-tone audiometry, tympanometry, stapedial reflexes, otoacoustic emissions, and brainstem-evoked response audiometry in adult patients on enzyme replacement therapy for genetically confirmed Pompe disease. Study sample: 11 adult patients (median age: 47 years, range: 22–71). Results: Four patients complained about subjective hearing disturbances. Using World Health Organization definition of hearing impairment, abnormal hearing thresholds resulting in mild hearing loss were found in 36% of patients. Compared to normative data (ISO 7029), the hearing threshold was below the median in all but three ears. Stapedial reflexes could not be elicited ipsilateral in 18% and contralateral in 36%. Auditory brainstem responses showed no retrocochlear pathology. Conclusions: The prevalence of hearing loss slightly exceeded the normative data of the general population. Consistent with previous studies the hearing impairment was usually mild. The percentage of pathological stapedial reflexes exceeded that of matched control subjects and suggests a selective involvement of the stapedius muscle, potentially as a sequela of Pompe disease.

Key Words::

• Late-onset Pompe disease
• glycogenosis type II
• stapedial reflex
• hearing threshold
• residual noise

Acknowledgements

The authors thank the Department of Neurology for the clinical assessment and the Department of Audiology and Neurootology for performing the audiological assessment. The authors thank Dr. K. Birch for copy-editing the manuscript.

Declaration of interest: T. Rahne and S. Plontke report no conflict of interest. F. Hanisch has received lecturer honoraria from the Genzyme Corporation. Parts of this article were presented by F. Hanisch as a poster at the ‘57. Jahrestagung der Deutschen Gesellschaft für Klinische Elektrophysiologie und Funktionelle Bildgebung (DGKN)’ in Leipzig (Germany) at 21th March 2013. Parts of this article were submitted to be presented by T. Rahne at the ‘84. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohrenheilkunde, Kopf- und Hals-Chirurgie’ in Bonn (Germany) at 10th May 2013.