Autosomal dominant progressive external ophthalmoplegia

Orpha code: 254892OMIM code: 157640

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 skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.

Disease data
Klasyfikacja

Disease

Synonimy
adPEO
adPEO
Kod ORPHA
254892
Kod OMIM
157640
Kod ICD10
H49.4
Kod ICD11
9C82.0

No additional description.

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