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.
authors.affiliation: Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address: hedermann@gmail.com.
authors.forename: Gitte
authors.initials: G
authors.lastname: Hedermann
authors.affiliation: Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address: nicoline.loekken@regionh.dk.
authors.forename: Nicoline
authors.initials: N
authors.lastname: Løkken
authors.affiliation: Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address: julia.rebecka.dahlqvist@regionh.dk.
authors.forename: Julia R
authors.initials: JR
authors.lastname: Dahlqvist
authors.affiliation: Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address: vissing@rh.dk.
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D004272:DNA, Mitochondrial / Q000235:genetics; D003680:Deglutition Disorders / Q000209:etiology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications*; D017384:Sequence Deletion; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial
keywords: CPEO; Chronic progressive external ophthalmoplegia; Dysphagia; Mitochondrial myopathy; Single large-scale deletion