external ophthalmoplegia

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, clinical depression, hypogonadism, and parkinsonism.

Genetics

Both autosomal dominant and autosomal recessive inheritance can occur, autosomal recessive inheritance being more severe. However, in most cases, PEO occurs due to a sporadic deletion or duplication within the mitochondrial DNA. A transmission from the mother to the progeny appears only in few cases.

Diagnosis

It is usually diagnosed by neurologists.

Prognosis

There is no proven treatment, but experimental agents such as coenyzme Q10 may provide benefit. (Reference needed.)

References

See also

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