Autosomal dominant progressive external ophthalmoplegia

Engelsk navn: Autosomal dominant progressive external ophthalmoplegia
Engelske synonym: adPEO


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.

Fra Orphanet

ORPHA: 254892
Klassifiseringsnivå: Disorder
ICD-10: H49.4

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