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.
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Research Article|
June 13 2007
Mitochondrial Syndromic Sensorineural Hearing Loss
F. Forli;
F. Forli
1Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa 56126, Italy
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S. Passetti;
S. Passetti
1Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa 56126, Italy
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M. Mancuso;
M. Mancuso
2Neurological Clinic, Department of Neuroscience, University of Pisa, Pisa, Italy
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V. Seccia;
V. Seccia
1Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa 56126, Italy
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G. Siciliano;
G. Siciliano
2Neurological Clinic, Department of Neuroscience, University of Pisa, Pisa, Italy
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C. Nesti;
C. Nesti
2Neurological Clinic, Department of Neuroscience, University of Pisa, Pisa, Italy
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S. Berrettini
S. Berrettini
1Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa 56126, Italy
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Publisher: Portland Press Ltd
Online ISSN: 1573-4935
Print ISSN: 0144-8463
© 2007 The Biochemical Society
2007
Biosci Rep (2007) 27 (1-3): 113–123.
Citation
F. Forli, S. Passetti, M. Mancuso, V. Seccia, G. Siciliano, C. Nesti, S. Berrettini; Mitochondrial Syndromic Sensorineural Hearing Loss. Biosci Rep 13 June 2007; 27 (1-3): 113–123. doi: https://doi.org/10.1007/s10540-007-9040-5
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