Orphanet: Autosomal recessive progressive external ophthalmoplegia
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Autosomal recessive 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 generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.

ORPHA:254886

Classification level: Disorder
  • Synonym(s):
    • arPEO
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: H49.4
  • OMIM: 258450  617069
  • UMLS: C1850303
  • MeSH: -
  • GARD: 1191
  • MedDRA: -

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

Detailed information

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

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