Mitochondrial syndromic sensorineural hearing loss

F. Forli, S. Passetti, M. Mancuso, V. Seccia, G. Siciliano, C. Nesti, S. Berrettini

Research output: Contribution to journalArticlepeer-review


Mitochondrial diseases (MD) are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) is often associated to mitochondrial dysfunctions both in syndromic, nonsyndromic forms. SNHL has been described in association to different mitochondrial multisystemic syndromes, often characterized by an important neuromuscular involvement. Because of the clinical relevance of the associated neurological symptoms, the occurrence of SNHL is often underestimated and undiagnosed. In this study we evaluated the incidence of SNHL in a group of 17 patients with MD. We detected some degree of hearing impairment in 8/17 patients (47%), thus confirming the frequency of hearing impairment in MD. Furthermore, we want to highlight the role of the audiologist and otolaryngologist in the diagnosis and characterization of a MD, which should be suspected in all the cases in which the hearing loss is associated to signs and symptoms characteristic of mitochondrial dysfunction, especially if the family history is positive for hearing loss or MD in the maternal line.

Original languageEnglish
Pages (from-to)113-123
Number of pages11
JournalBioscience Reports
Issue number1-3
Publication statusPublished - Jun 2007


  • Cochlea
  • Mitochondrial hearing loss
  • Sensorineural hearing loss
  • Syndromic hearing loss

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Cell Biology


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