Autosomal recessive progressive external ophthalmoplegia

Orpha code: 254886OMIM code: 617069

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
arPEO
arPEO
Kod ORPHA
254886
Kod OMIM
617069
Kod ICD10
H49.4
Kod ICD11
9C82.0

No additional description.

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