Autosomal recessive progressive external ophthalmoplegia

Orpha code: 254886OMIM code: 617069

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 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
Classification

Disease

Synonyms
arPEO
arPEO
ORPHA code
254886
OMIM code
617069
ICD10 code
H49.4
ICD11 code
9C82.0

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl