Progressive external ophthalmoplegia

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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

Example of how progressive external ophthalmoplegia may be inherited in an autosomal recessive fashion.

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.

See also

• Ophthalmoparesis