• Roberto DiFabio, Filippo M Santorelli, Giuseppe Nola, Federica Cricchi, Roberto Masi, Angelo Ingrosso, Fabiana Fattori, Rosalba Carrozzo, Nicola Vanacore, Francesco Pierelli, Giovanni Ralli, and Carlo Casali.
• Department of Neurology and ORL, Sapienza University of Rome ICOT, Polo Pontino, 04100 Latina, Italy. rob.dif@tiscali.it
• Neuromuscul. Disord. 2009 Apr 1; 19 (4): 291-6.

AbstractHearing loss is relatively common in mtDNA-related disorders. While auditory function has been assessed fully in the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, few studies have investigated the degree of progressive hearing deficit in individuals bearing other mtDNA mutations. We performed a 4-year clinical and audiological follow up in a family carrying the 8363G>A mutation in the mitochondrial transfer ribonucleic acid lysine (tRNA(Lys)) gene who displayed a progressive neuromuscular disease. In addition to pure tone audiometry, we considered distortion products of otoacoustic emissions, a sensitive indicator of cochlear dysfunction, as well as brainstem auditory evoked responses. A generalized increase in the auditory threshold at follow up, indicating a cochlear impairment in three cases, was noted. Distortion products of otoacoustic emissions may reveal sub-clinical cochlear dysfunction, even in oligosymptomatic patients. A complete and periodical assessment of the hearing function should be encouraged in asymptomatic relatives of patients carrying the tRNA(Lys) 8363G>A mutation.

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