Progressive external ophthalmoplegia

Progressive external ophthalmoplegia is a disorder of the mitochondria. It is characterized by multiple mitochondrial DNA deletions in skeletal muscle.

Presentation
The most common clinical features include adult onset of weakness of the external eye muscles (ophthalmoplegia) and exercise intolerance.

Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.

Genetics
Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe.

Diagnosis
It is usually diagnosed by neurologists.

Prognosis
There is no proven treatment; experimental agents such as coenyzme Q10 may provide benefit.