Autosomal dominant progressive external ophthalmoplegia

Orpha code: 254892OMIM code: 157640

Definition

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
Classification

Disease

Synonyms
adPEO
adPEO
ORPHA code
254892
OMIM code
157640
ICD10 code
H49.4
ICD11 code
9C82.0

No additional description.

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