ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy

Here we report the evaluation of the frequency of subjective and objective otolaryngologic findings and therapeutic results in 32 patients with mitochondrial encephalomyopathy (MEM) from September 2001 to June 2021. Our analysis included studying the patients' family histories, the clinical man...

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Bibliographic Details
Published in:European journal of medical research 2022-10, Vol.27 (1), p.1-221, Article 221
Main Authors: Long, Haishan, Wen, Cheng, Zhao, Juan, Wang, Jiawei, Li, Yang, Fu, Xinxing, Huang, Lihui
Format: Article
Language:English
Subjects:
Acoustics
Age
Care and treatment
Deafness
Dysphagia
Ears & hearing
Electromyography
Exercise intolerance
Facial weakness
Health aspects
Hearing loss
Mitochondrial
Mitochondrial DNA
Mutation
Otolaryngology
Ptosis
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Summary:Here we report the evaluation of the frequency of subjective and objective otolaryngologic findings and therapeutic results in 32 patients with mitochondrial encephalomyopathy (MEM) from September 2001 to June 2021. Our analysis included studying the patients' family histories, the clinical manifestations of MEM, and the therapeutic effects of treatments. The patients' ages ranged from 2 to 77 years, with a median age of 12.3 years. We found that MEM ENT symptoms were characterized by hearing loss, dysphagia, and facial weakness. Most cases of sensorineural hearing loss were bilateral symmetrical progressive or sudden deafness since adolescence, which were often underestimated. Associated neuromuscular symptoms required mtDNA testing. Dysphagia and facial weakness occurred preferentially in middle-aged patients, and muscle biopsies were advised. Distortion product otoacoustic emissions and auditory brainstem responsetesting were more sensitive and reliable than pure tone averages for objective monitoring of pathogenesis. Administration of the mitochondrial synthase complex benefited patients with acute episodes. If patients did not fully recover and exhibitedresidual language deficits, hearing aids or cochlear implants were recommended. Counsel was given regarding synthetical treatments for facial weakness, endoscopic circopharyngealmyotomy for dysphagia, and surgical correction of ptosis. This study demonstrates that increased awareness of these symptoms is important to address appropriate interventions and avoid complications such as ablepsia, aphasia, social isolation, malnutrition, aspiration pneumonia, and heart failure in the setting of MEM. Keywords: Hearing loss, Dysphagia, Facial weakness, Ptosis, Exercise intolerance, Mitochondrial
ISSN:2047-783X
0949-2321
2047-783X
DOI:10.1186/s40001-022-00832-7