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

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

SN - 1567-7249

VL - 32

SP - 27

EP - 30

JO - Mitochondrion

JF - Mitochondrion

ER -