Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA
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Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA. / Pedersen, Gitte Hedermann; Løkken, Nicoline; Dahlqvist, Julia R.; Vissing, John.
In: Mitochondrion, Vol. 32, 01.2017, p. 27-30.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA
AU - Pedersen, Gitte Hedermann
AU - Løkken, Nicoline
AU - Dahlqvist, Julia R.
AU - Vissing, John
PY - 2017/1
Y1 - 2017/1
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 80 ml 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 ≥ 45 years. 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 80 ml 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 ≥ 45 years. 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.
KW - Chronic progressive external ophthalmoplegia
KW - CPEO
KW - Dysphagia
KW - Mitochondrial myopathy
KW - Single large-scale deletion
U2 - 10.1016/j.mito.2016.11.007
DO - 10.1016/j.mito.2016.11.007
M3 - Journal article
C2 - 27856367
AN - SCOPUS:85006835734
VL - 32
SP - 27
EP - 30
JO - Mitochondrion
JF - Mitochondrion
SN - 1567-7249
ER -
ID: 180820658