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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: -
  • ICD-10: H49.4
  • OMIM: 157640  609283  609286  610131  613077
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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