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Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA

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@article{3b2572c52d184502a5e422353e85b5e8,
title = "Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA",
abstract = "BACKGROUND: The aim of this study was to assess the frequency of subjective and objective dysphagia in patients with chronic progressive external ophthalmoplegia (CPEO) due to single, large-scale deletions (LSDs) of mitochondrial DNA (mtDNA).METHODS: Sixteen patients with CPEO and single LSDs of mtDNA were included in the study and compared to a control group of 12 patients with the m.3243A>G mtDNA mutation. Patients had to drink 80ml of water at 4°C as fast as they could (cold-water test) and fill out a standardized questionnaire about dysphagia.RESULTS: Eight patients (50%) with CPEO and single LSDs of mtDNA had a prolonged cold-water test, including one with a PEG-tube, who was unable to perform the test, and nine patients reported subjective swallowing problems (56.3%). All mitochondrial myopathy patients in the control group had a normal duration of the cold-water test.CONCLUSIONS: The study shows that dysphagia is a common problem in patients with CPEO and LSDs of mtDNA. Dysphagia seems to be progressive with age as abnormal swallowing occurred preferentially in persons ≥45years. The study shows that increased awareness of this symptom should be given to address appropriate treatment interventions and avoid complications such as social isolation, malnutrition and aspiration pneumonia.",
author = "Gitte Hedermann and Nicoline L{\o}kken and Dahlqvist, {Julia R} and John Vissing",
note = "Copyright {\textcopyright} 2016. Published by Elsevier B.V.",
year = "2016",
month = nov,
day = "14",
doi = "10.1016/j.mito.2016.11.007",
language = "English",
volume = "32",
pages = "27--30",
journal = "Mitochondrion",
issn = "1567-7249",
publisher = "Elsevier BV",

}

RIS

TY - JOUR

T1 - Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA

AU - Hedermann, Gitte

AU - Løkken, Nicoline

AU - Dahlqvist, Julia R

AU - Vissing, John

N1 - Copyright © 2016. Published by Elsevier B.V.

PY - 2016/11/14

Y1 - 2016/11/14

N2 - BACKGROUND: The aim of this study was to assess the frequency of subjective and objective dysphagia in patients with chronic progressive external ophthalmoplegia (CPEO) due to single, large-scale deletions (LSDs) of mitochondrial DNA (mtDNA).METHODS: Sixteen patients with CPEO and single LSDs of mtDNA were included in the study and compared to a control group of 12 patients with the m.3243A>G mtDNA mutation. Patients had to drink 80ml of water at 4°C as fast as they could (cold-water test) and fill out a standardized questionnaire about dysphagia.RESULTS: Eight patients (50%) with CPEO and single LSDs of mtDNA had a prolonged cold-water test, including one with a PEG-tube, who was unable to perform the test, and nine patients reported subjective swallowing problems (56.3%). All mitochondrial myopathy patients in the control group had a normal duration of the cold-water test.CONCLUSIONS: The study shows that dysphagia is a common problem in patients with CPEO and LSDs of mtDNA. Dysphagia seems to be progressive with age as abnormal swallowing occurred preferentially in persons ≥45years. The study shows that increased awareness of this symptom should be given to address appropriate treatment interventions and avoid complications such as social isolation, malnutrition and aspiration pneumonia.

AB - BACKGROUND: The aim of this study was to assess the frequency of subjective and objective dysphagia in patients with chronic progressive external ophthalmoplegia (CPEO) due to single, large-scale deletions (LSDs) of mitochondrial DNA (mtDNA).METHODS: Sixteen patients with CPEO and single LSDs of mtDNA were included in the study and compared to a control group of 12 patients with the m.3243A>G mtDNA mutation. Patients had to drink 80ml of water at 4°C as fast as they could (cold-water test) and fill out a standardized questionnaire about dysphagia.RESULTS: Eight patients (50%) with CPEO and single LSDs of mtDNA had a prolonged cold-water test, including one with a PEG-tube, who was unable to perform the test, and nine patients reported subjective swallowing problems (56.3%). All mitochondrial myopathy patients in the control group had a normal duration of the cold-water test.CONCLUSIONS: The study shows that dysphagia is a common problem in patients with CPEO and LSDs of mtDNA. Dysphagia seems to be progressive with age as abnormal swallowing occurred preferentially in persons ≥45years. The study shows that increased awareness of this symptom should be given to address appropriate treatment interventions and avoid complications such as social isolation, malnutrition and aspiration pneumonia.

U2 - 10.1016/j.mito.2016.11.007

DO - 10.1016/j.mito.2016.11.007

M3 - Journal article

C2 - 27856367

VL - 32

SP - 27

EP - 30

JO - Mitochondrion

JF - Mitochondrion

SN - 1567-7249

ER -

ID: 49294049