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Hearing in adults with Pompe disease
Nadine A M E van der Beek1, Hans Verschuure, Arnold J J Reuser
1Department 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
Hearing loss is common in adults with Pompe disease, affecting 72% of patients. However, this prevalence is similar to the general population, indicating it
Area of Science:
- Neurology
- Genetics
- Audiology
Background:
- Pompe disease, a metabolic disorder due to acid α-glucosidase deficiency, is known to cause hearing loss in infants.
- The impact of Pompe disease on hearing in adult patients remains largely uninvestigated.
Purpose of the Study:
- To determine the prevalence, severity, and type of hearing loss in adult patients with Pompe disease.
Main Methods:
- Evaluated 58 adult Pompe disease patients using tympanometry and pure-tone audiometry.
- Compared patient hearing thresholds against International Organisation for Standardisation standard 7029 normative data.
- Classified hearing loss severity based on World Health Organisation standards.
Main Results:
- 72% of adult Pompe patients exhibited impaired hearing thresholds across various frequencies.
- All affected patients presented with sensorineural hearing loss, suggesting cochlear or retrocochlear origins.
- 21% of patients had clinically relevant hearing loss (16% slight, 3% moderate, 2% profound).
Conclusions:
- Hearing loss is prevalent in adults with Pompe disease.
- The observed prevalence of hearing loss in adult Pompe patients is comparable to the general population.
- Hearing loss is not considered a specific or unique feature of Pompe disease in adults.
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