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Definition

A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.

Acronym

PEOA4

Synonyms

Chronic progressive external ophthalmoplegia
CPEO
Graefe disease
Mitochondrial ocular myopathy
Ocular myopathy of von Graefe-Fuchs
Progressive external ophthalmoplegia autosomal dominant 4

Keywords

Progressive external ophthalmoplegia

 
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