Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0262471 (ENT)
 5,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A mitochondrial tRNA mutation at nucleotide 3,243 is known to be found in most patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes). We report a 30 year-old female patient of MELAS, diagnosed 5 years ago, who presented herself to our ENT outpatient department because of her bilateral tinnitus and progressive hearing impairment since 4 years ago. Two sequential pure tone audiograms showed bilateral symmetrical progressive sensorineural hearing loss, especially in the high frequency area in 1993 and 1996. The pure tone average was R-45 dB, L-47 dB in 1993 and R-62 dB, L-67 dB in 1996. Hearing loss is an important feature in MELAS syndrome and reported to be seen in about 30% of patients. It is often the first clinical symptom, too. In any case, mitochondrial cytopathies need to be considered by the otologist in forming a diagnosis of sensorineural hearing loss (SNHL), particularly in cases, which present adult-onset progressive hearing loss and neurologic symptoms before 50 years of age.
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PMID:Sensorineural hearing loss in MELAS syndrome--case report. 978 Jun 3

The present study investigates cochlear function in a group of 11 patients suffering from mitochondrial myopathy with normal or near normal audiometric pure tone thresholds, in most of whom diagnosis was histologically confirmed. A complete ENT, neurologic and audiological work-up, including transiently evoked otoacoustic emissions, was performed in all patients in order to estimate cochlear function. Compared to control subjects, most patients had absent otoacoustic emissions (OAE) in spite of normal hearing, indicating cochlear dysfunction. These findings suggest that subclinical involvement of the cochlea is quite common in patients with mitochondrial myopathy. Damage of the cochlea can be explained on the grounds of its increased metabolic rate, resulting in failure of the stria vascularis and the outer hair cells. Otoacoustic emissions might provide a useful tool in the clinical work-up and follow-up of these patients.
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PMID:Cochlear dysfunction in patients with mitochondrial myopathy. 1241 71