title: Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye.
abstract: We determined the extent of disease impact in 28 patients with genetically confirmed chronic progressive external ophthalmoplegia (CPEO) and compared the outcomes to those of matched myotonic dystrophy type I patients. CPEO patients reported a high frequency of severe fatigue (67.9%), pain (96.2%), depression (32.1%) and dependency in daily life (46.4%). The frequency and extent of depression were significantly higher than in DM1 patients (32.1% vs. 7.1%, p=0.040; mean Beck's depression inventory for primary care score 3.8±3.5 vs. 1.3±1.4, p=0.001), as were fatigue severity, pain intensity and extent of functional impairments. CPEO patients with polymerase gamma-1 mutations reported more functional impairments than those with mitochondrial DNA mutations. Disease impact was however not influenced by most clinical features. The present results help physicians to identify and to treat the factors that influence quality of life in CPEO patients and to provide symptomatic treatment where needed.
authors.affiliation: Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 Nijmegen HB, The Netherlands. b.smits@neuro.umcn.nl
authors.forename: Bart W
authors.initials: BW
authors.lastname: Smits
authors.forename: Jiske
authors.initials: J
authors.lastname: Fermont
authors.forename: Cathérine C S
authors.initials: CC
authors.lastname: Delnooz
authors.forename: Joke S
authors.initials: JS
authors.lastname: Kalkman
authors.forename: Gijs
authors.initials: G
authors.lastname: Bleijenberg
authors.forename: Baziel G M
authors.initials: BG
authors.lastname: van Engelen
mesh_terms: D000203:Activities of Daily Living; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002908:Chronic Disease; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D003863:Depression / Q000209:etiology; D005123:Eye / Q000473:pathology*; D005221:Fatigue / Q000209:etiology / Q000523:psychology; D005260:Female; D006801:Humans; D057187:Independent Living; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D009223:Myotonic Dystrophy / Q000150:complications / Q000523:psychology; D016017:Odds Ratio; D009886:Ophthalmoplegia / Q000150:complications* / Q000523:psychology; D010146:Pain / Q000209:etiology; D010147:Pain Measurement; D011569:Psychiatric Status Rating Scales; D011788:Quality of Life; D011795:Surveys and Questionnaires; D016896:Treatment Outcome
chemical_list: D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human