Autosomal recessive progressive external ophthalmoplegia


Engelsk navn: Autosomal recessive progressive external ophthalmoplegia
Engelske synonym: arPEO


Definisjon

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.

Fra Orphanet

ORPHA: 254886
Klassifiseringsnivå: Disorder
ICD-10: H49.4

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