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Autosomal dominant progressive external ophthalmoplegia

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Description

A rare genetic neuro-ophthalmological disease with characteristics of 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.

SNOMEDCT_US

  • Mode of Inheritance

    VARIANTS

    0

    Genes

    External Links

    • OMIM
    • Orphanet

      254892

    • HPO
    • Medgen

      C5231255

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