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Autosomal dominant progressive external ophthalmoplegia

Disease definition

A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.

ORPHA:254892

Classification level: Disorder
  • Synonym(s):
    • adPEO
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: H49.4
  • ICD-11: 9C82.0
  • OMIM: 157640  609283  609286  610131  613077
  • UMLS: C5231255
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Detailed information

General public

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

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Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.