ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy
Abstract 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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-10-01
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| Series: | European Journal of Medical Research |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40001-022-00832-7 |
| _version_ | 1811335144268627968 |
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| author | Haishan Long Cheng Wen Juan Zhao Jiawei Wang Yang Li Xinxing Fu Lihui Huang |
| author_facet | Haishan Long Cheng Wen Juan Zhao Jiawei Wang Yang Li Xinxing Fu Lihui Huang |
| author_sort | Haishan Long |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-13T17:19:46Z |
| format | Article |
| id | doaj.art-c9f1dd719e21439db9692a859bcf4974 |
| institution | Directory Open Access Journal |
| issn | 2047-783X |
| language | English |
| last_indexed | 2024-04-13T17:19:46Z |
| publishDate | 2022-10-01 |
| publisher | BMC |
| record_format | Article |
| series | European Journal of Medical Research |
| spelling | doaj.art-c9f1dd719e21439db9692a859bcf49742022-12-22T02:38:01ZengBMCEuropean Journal of Medical Research2047-783X2022-10-0127111210.1186/s40001-022-00832-7ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathyHaishan Long0Cheng Wen1Juan Zhao2Jiawei Wang3Yang Li4Xinxing Fu5Lihui Huang6Department of Otolaryngology Head and Neck Surgery Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University) Ministry of Education, Beijing Tongren Hospital, Capital Medical UniversityDepartment of Otolaryngology Head and Neck Surgery Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University) Ministry of Education, Beijing Tongren Hospital, Capital Medical UniversityDepartments of Neurology, Central Laboratory, Beijing Tongren Hospital, Capital Medical UniversityDepartments of Neurology, Central Laboratory, Beijing Tongren Hospital, Capital Medical UniversityDepartment of Ophthalmology Beijing Institute of Ophthalmology, Key Laboratory of Ophthalmology and Visual Science (Capital Medical University) Ministry of Education, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical UniversityDepartment of Otolaryngology Head and Neck Surgery Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University) Ministry of Education, Beijing Tongren Hospital, Capital Medical UniversityDepartment of Otolaryngology Head and Neck Surgery Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University) Ministry of Education, Beijing Tongren Hospital, Capital Medical UniversityAbstract 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.https://doi.org/10.1186/s40001-022-00832-7Hearing lossDysphagiaFacial weaknessPtosisExercise intoleranceMitochondrial |
| spellingShingle | Haishan Long Cheng Wen Juan Zhao Jiawei Wang Yang Li Xinxing Fu Lihui Huang ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy European Journal of Medical Research Hearing loss Dysphagia Facial weakness Ptosis Exercise intolerance Mitochondrial |
| title | ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy |
| title_full | ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy |
| title_fullStr | ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy |
| title_full_unstemmed | ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy |
| title_short | ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy |
| title_sort | ent characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy |
| topic | Hearing loss Dysphagia Facial weakness Ptosis Exercise intolerance Mitochondrial |
| url | https://doi.org/10.1186/s40001-022-00832-7 |
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