Related Experiment Video
Updated: Jul 11, 2025
Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
Published on: January 25, 2016
The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss
Alaa Koleilat1, Gayla L Poling2, Lisa A Schimmenti3
1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Objectives:
Sensorineural hearing loss (SNHL) occurs commonly as part of mitochondriopathies and varies in severity and onset. In this study, we characterized hearing with specific consideration for hearing loss as a potential early indicator of mitochondrial disease (MD). We hypothesize that genetic testing at the earliest detection of SNHL may lead to an earlier MD diagnosis.
Design:
We reviewed the clinical and audiometric data of 49 patients undergoing genetic testing for MD.
Results:
One-third of individuals with molecularly confirmed MD presented with SNHL. On average, patients had hearing loss at least 10 years before genetic testing. The collective audiometric profile includes mild to moderate SNHL at lower frequencies and moderate SNHL at 2 kHz and higher frequencies.
Conclusions:
This study suggests that screening for SNHL could be an early indicator of MD. We propose that the audiometric profile for those with a MD diagnosis may have clinical triage utility.
