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Resumé

OBJECTIVES: The mitochondrial DNA (mtDNA) point mutation m.3243A>G is known to express the following two syndromes among others: Maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Sensorineural hearing loss (SNHL) is the most frequent symptom in individuals harboring the m.3243A>G mutation. However, dysfunction of the vestibular organs has been scarcely examined. Therefore, the present study aimed to study the impact of the m.3243A>G mutation on the inner ear. MATERIALS and METHODS: A total of 8 subjects harboring the blood-verified m.3243A>G mutation underwent thorough audiological and vestibular examinations, including tone and speech audiometry, video head impulse test (vHIT), ocular and cervical vestibular-evoked myogenic potential (oVEMP and cVEMP), and full otoneurological examination. The subjects also answered a Dizziness Handicap Inventory (DHI) questionnaire. RESULTS: SNHL was identified in all the 8 subjects, with a mean pure-tone average-4 (PTA-4) of 59 dB. Speech discrimination score (n=7) ranged from 24% to 100% (mean 74%), and vHIT (n=42) detected pathology in nine lateral semicircular canals (SCCs), five posterior SCCs, and one anterior SCC, whereas three measurements were inconclusive. All oVEMPs (n=14 ears) were absent, nine cVEMPs were absent, and two were inconclusive. Based on the DHI scores, 6 subjects reported none to mild dizziness, 1 reported moderate, and 1 reported severe dizziness. CONCLUSION: Our study population had pathological findings from every audiological and vestibular end organs. The results indicated that the pathological findings originated from within the end organs themselves and not within the superior and inferior vestibular or cochlear nerve.

OriginalsprogEngelsk
TidsskriftThe Journal of International Advanced Otology
Vol/bind15
Udgave nummer2
Sider (fra-til)296-303
Antal sider8
ISSN2148-3817
DOI
StatusUdgivet - aug. 2019

Fingerprint

Lactic Acidosis
Dizziness
Semicircular Canals
Head Impulse Test
Stroke
Vestibular Evoked Myogenic Potentials
Sensorineural Hearing Loss
Mutation
Speech Audiometry
Vestibular Nerve
Equipment and Supplies
Cochlear Nerve
Speech Perception
Inner Ear
Mitochondrial DNA
Point Mutation
Ear
Pathology
Mitochondrial encephalopathy
Population

Citer dette

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title = "Audiological and Vestibular Findings in Subjects with MELAS Syndrome",
abstract = "OBJECTIVES: The mitochondrial DNA (mtDNA) point mutation m.3243A>G is known to express the following two syndromes among others: Maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Sensorineural hearing loss (SNHL) is the most frequent symptom in individuals harboring the m.3243A>G mutation. However, dysfunction of the vestibular organs has been scarcely examined. Therefore, the present study aimed to study the impact of the m.3243A>G mutation on the inner ear. MATERIALS and METHODS: A total of 8 subjects harboring the blood-verified m.3243A>G mutation underwent thorough audiological and vestibular examinations, including tone and speech audiometry, video head impulse test (vHIT), ocular and cervical vestibular-evoked myogenic potential (oVEMP and cVEMP), and full otoneurological examination. The subjects also answered a Dizziness Handicap Inventory (DHI) questionnaire. RESULTS: SNHL was identified in all the 8 subjects, with a mean pure-tone average-4 (PTA-4) of 59 dB. Speech discrimination score (n=7) ranged from 24{\%} to 100{\%} (mean 74{\%}), and vHIT (n=42) detected pathology in nine lateral semicircular canals (SCCs), five posterior SCCs, and one anterior SCC, whereas three measurements were inconclusive. All oVEMPs (n=14 ears) were absent, nine cVEMPs were absent, and two were inconclusive. Based on the DHI scores, 6 subjects reported none to mild dizziness, 1 reported moderate, and 1 reported severe dizziness. CONCLUSION: Our study population had pathological findings from every audiological and vestibular end organs. The results indicated that the pathological findings originated from within the end organs themselves and not within the superior and inferior vestibular or cochlear nerve.",
keywords = "Inner ear disease, MELAS syndrome, Mitochondrial diseases, Sensorineural hearing loss, Vestibular disease",
author = "Hougaard, {Dan Dupont} and Hestoy, {Danjal Hofgaard} and H{\o}jland, {Allan Thomas} and Michael Gaihede and Petersen, {Michael Bj{\o}rn}",
year = "2019",
month = "8",
doi = "10.5152/iao.2019.5913",
language = "English",
volume = "15",
pages = "296--303",
journal = "The Journal of International Advanced Otology",
issn = "2148-3817",
number = "2",

}

TY - JOUR

T1 - Audiological and Vestibular Findings in Subjects with MELAS Syndrome

AU - Hougaard, Dan Dupont

AU - Hestoy, Danjal Hofgaard

AU - Højland, Allan Thomas

AU - Gaihede, Michael

AU - Petersen, Michael Bjørn

PY - 2019/8

Y1 - 2019/8

N2 - OBJECTIVES: The mitochondrial DNA (mtDNA) point mutation m.3243A>G is known to express the following two syndromes among others: Maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Sensorineural hearing loss (SNHL) is the most frequent symptom in individuals harboring the m.3243A>G mutation. However, dysfunction of the vestibular organs has been scarcely examined. Therefore, the present study aimed to study the impact of the m.3243A>G mutation on the inner ear. MATERIALS and METHODS: A total of 8 subjects harboring the blood-verified m.3243A>G mutation underwent thorough audiological and vestibular examinations, including tone and speech audiometry, video head impulse test (vHIT), ocular and cervical vestibular-evoked myogenic potential (oVEMP and cVEMP), and full otoneurological examination. The subjects also answered a Dizziness Handicap Inventory (DHI) questionnaire. RESULTS: SNHL was identified in all the 8 subjects, with a mean pure-tone average-4 (PTA-4) of 59 dB. Speech discrimination score (n=7) ranged from 24% to 100% (mean 74%), and vHIT (n=42) detected pathology in nine lateral semicircular canals (SCCs), five posterior SCCs, and one anterior SCC, whereas three measurements were inconclusive. All oVEMPs (n=14 ears) were absent, nine cVEMPs were absent, and two were inconclusive. Based on the DHI scores, 6 subjects reported none to mild dizziness, 1 reported moderate, and 1 reported severe dizziness. CONCLUSION: Our study population had pathological findings from every audiological and vestibular end organs. The results indicated that the pathological findings originated from within the end organs themselves and not within the superior and inferior vestibular or cochlear nerve.

AB - OBJECTIVES: The mitochondrial DNA (mtDNA) point mutation m.3243A>G is known to express the following two syndromes among others: Maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Sensorineural hearing loss (SNHL) is the most frequent symptom in individuals harboring the m.3243A>G mutation. However, dysfunction of the vestibular organs has been scarcely examined. Therefore, the present study aimed to study the impact of the m.3243A>G mutation on the inner ear. MATERIALS and METHODS: A total of 8 subjects harboring the blood-verified m.3243A>G mutation underwent thorough audiological and vestibular examinations, including tone and speech audiometry, video head impulse test (vHIT), ocular and cervical vestibular-evoked myogenic potential (oVEMP and cVEMP), and full otoneurological examination. The subjects also answered a Dizziness Handicap Inventory (DHI) questionnaire. RESULTS: SNHL was identified in all the 8 subjects, with a mean pure-tone average-4 (PTA-4) of 59 dB. Speech discrimination score (n=7) ranged from 24% to 100% (mean 74%), and vHIT (n=42) detected pathology in nine lateral semicircular canals (SCCs), five posterior SCCs, and one anterior SCC, whereas three measurements were inconclusive. All oVEMPs (n=14 ears) were absent, nine cVEMPs were absent, and two were inconclusive. Based on the DHI scores, 6 subjects reported none to mild dizziness, 1 reported moderate, and 1 reported severe dizziness. CONCLUSION: Our study population had pathological findings from every audiological and vestibular end organs. The results indicated that the pathological findings originated from within the end organs themselves and not within the superior and inferior vestibular or cochlear nerve.

KW - Inner ear disease

KW - MELAS syndrome

KW - Mitochondrial diseases

KW - Sensorineural hearing loss

KW - Vestibular disease

UR - http://www.scopus.com/inward/record.url?scp=85071350716&partnerID=8YFLogxK

U2 - 10.5152/iao.2019.5913

DO - 10.5152/iao.2019.5913

M3 - Journal article

C2 - 31347509

VL - 15

SP - 296

EP - 303

JO - The Journal of International Advanced Otology

JF - The Journal of International Advanced Otology

SN - 2148-3817

IS - 2

ER -