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Related Experiment Videos

Mitochondrial syndromic sensorineural hearing loss.

F Forli1, S Passetti, M Mancuso

  • 1Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa, 56126, Italy.

Bioscience Reports
|May 10, 2007
PubMed
Summary
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Sensorineural hearing loss (SNHL) affects nearly half of patients with mitochondrial diseases (MD). Early audiological evaluation is crucial for diagnosing MD, especially when hearing loss presents with neurological symptoms or a family history.

Area of Science:

  • Genetics
  • Neurology
  • Otolaryngology

Background:

  • Mitochondrial diseases (MD) result from mitochondrial respiratory chain dysfunction, causing diverse clinical symptoms.
  • Sensorineural hearing loss (SNHL) is frequently linked to mitochondrial dysfunction, appearing in both syndromic and nonsyndromic forms.
  • SNHL in MD is often overlooked due to the prominence of neurological symptoms, leading to underdiagnosis.

Purpose of the Study:

  • To determine the incidence of SNHL in patients diagnosed with mitochondrial diseases (MD).
  • To emphasize the importance of audiologists and otolaryngologists in identifying and characterizing MD.
  • To raise clinical suspicion for MD in cases of hearing loss associated with mitochondrial dysfunction symptoms.

Main Methods:

  • Evaluation of hearing impairment in a cohort of 17 patients with diagnosed mitochondrial diseases (MD).

Related Experiment Videos

  • Clinical assessment focusing on the association between SNHL and characteristic MD symptoms.
  • Review of family history for hearing loss and MD, particularly on the maternal line.

    • Main Results:

    • A significant incidence of hearing impairment was detected, with 8 out of 17 patients (47%) exhibiting some degree of hearing loss.
    • This finding confirms the high frequency of hearing impairment in individuals with mitochondrial diseases.
    • The study underscores the frequent co-occurrence of SNHL and MD.

    Conclusions:

    • Hearing impairment is a common clinical manifestation in patients with mitochondrial diseases (MD).
    • Audiological and otolaryngological assessments are vital for the diagnosis and management of MD.
    • MD should be suspected in patients presenting with SNHL, especially if accompanied by neurological signs or a positive family history of hearing loss or MD.