title: Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature.
abstract: BACKGROUND
  Chronic progressive external ophthalmoplegia is a common mitochondrial disease that shares clinical, enzymatic, and genetic features with other mitochondrial disorders. Effective treatment does not exist, and corrective surgery of the ptosis as a palliative measure is a treatment option.
  
  
  METHODS
  This was a retrospective study of 10 years' duration gathering patients with the diagnosis. Information related to clinical features, ancillary tests, and genetic data was obtained from our patients.
  
  
  RESULTS
  Six patients were identified with this disease, 5 of them women, aged 44 to 72 years. All patients presented with ptosis, and in 50% of the patients it was asymmetric. Half of the patients noted mild dysphagia for liquids. The CPK and acetylcholine receptor antibody levels were normal. Jitter was increased in half of the patients and ragged-red fibers were present in 5 of them. The most common enzyme alteration was the combined deficit of complexes I and IV. Familial forms were not found among our patients. The most common genetic anomaly was a single deletion in the mitochondrial DNA.
  
  
  CONCLUSIONS
  Knowledge of this disorder enables us to avoid the use of drugs with significant side effects in cases of ptosis and ophthalmoplegia that do not respond to anticholinesterases.
authors.affiliation: Department of Neurology, Hospital Virgen de la Salud, Toledo, Spain. pjimenez1010j@yahoo.es
authors.forename: Pedro Enrique Jiménez
authors.initials: PE
authors.lastname: Caballero
authors.forename: Monica Serviá
authors.initials: MS
authors.lastname: Candela
authors.forename: Clara Isabel Cabeza
authors.initials: CI
authors.lastname: Alvarez
authors.forename: Araceli Alvarez
authors.initials: AA
authors.lastname: Tejerina
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000906:Antibodies / Q000378:metabolism; D001763:Blepharoptosis / Q000601:surgery; D002908:Chronic Disease; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017246:Ophthalmoplegia, Chronic Progressive External / Q000276:immunology / Q000473:pathology / Q000628:therapy; D011950:Receptors, Cholinergic / Q000276:immunology; D012196:Review Literature as Topic
chemical_list: D000906:Antibodies; D011950:Receptors, Cholinergic