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Progressive external ophthalmoplegia



Progressive external ophthalmoplegia
Classification & external resources
ICD-10 H49.4
ICD-9 378.72
OMIM 157640
DiseasesDB 29124
eMedicine oph/510 
MeSH D017246

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

Additional recommended knowledge

Contents

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 is usually more severe.

Diagnosis

It is usually diagnosed by neurologists.

Prognosis

There is no proven treatment;[1] experimental agents such as coenyzme Q10 may provide benefit.

References

  1. ^ Caballero PE, Candela MS, Alvarez CI, Tejerina AA (2007). "Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature". Neurologist 13 (1): 33–6. doi:10.1097/01.nrl.0000252953.49721.f5. PMID 17215725.

See also

 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Progressive_external_ophthalmoplegia". A list of authors is available in Wikipedia.
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