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Audiological findings in patients with myoclonic epilepsy associated with ragged-red fibres

Published online by Cambridge University Press:  08 March 2006

Takeshi Tsutsumi ,
Hiroaki Nishida ,
Yoshihiro Noguchi ,
Atsushi Komatsuzaki  and
Ken Kitamura
Takeshi Tsutsumi
Affiliation:
Department of Otolaryngology, School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Hiroaki Nishida
Affiliation:
Department of Otolaryngology, School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Yoshihiro Noguchi
Affiliation:
Department of Otolaryngology, School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Atsushi Komatsuzaki
Affiliation:
Department of Otolaryngology, School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Ken Kitamura
Affiliation:
Department of Otolaryngology, School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
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Abstract

Sensorineural hearing loss is a common symptom in patients with myoclonic epilepsy associated with ragged-red fibres (MERRF), one of the mitochondrial encephalomyopathies, although the lesion causing hearing loss in such cases remains unknown. Here we describe the audiological features in three MERRF patients, all of whom exhibited a point mutation in their mitochondrial DNA at nucleotide 8344. Pure-tone threshold audiometry revealed bilateral, sloping-type, sensorineural hearing loss in all three patients. Distortion product otoacoustic emissions, electrocochleography, and auditory brainstem responses were variable, even differing between the right and left ears of the same patient. Taken together, our findings suggest that the primary lesion underlying hearing loss in MERRF patients is in the cochlea, although a retrocochlear lesion may be involved in some patients.

Keywords

Hearing Loss, SensorineuralEpilepsies, Myoclonic
Type
Research Article
Information
The Journal of Laryngology & Otology , Volume 115 , Issue 10 , October 2001 , pp. 777 - 781
Copyright
© Royal Society of Medicine Press Limited 2001

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