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Progressive external ophthalmoplegia: Wikis

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Progressive external ophthalmoplegia
Classification and 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.

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

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 being more severe. Dominant and recessive forms of PEO can be caused by genetic mutations in the ANT1, POLG, POLG2 and PEO1 genes [1]. However, in most cases, PEO occurs due to a sporadic deletion or duplication within the mitochondrial DNA. [2] 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,[3] but experimental agents such as coenyzme Q10 may provide benefit. (Reference needed.)

References

  1. ^ Copeland, WC. (2008) Inherited Mitochondrial Diseases of DNA Replication Annu Rev Medicine 59, 131-146. PMID=17892433
  2. ^ Zeviani M, Di Donauto S (2004). "Mitochondrial disorders". Brain 127 (10): 2153–2172. doi:10.1093/brain/awh259. PMID 15358637.  
  3. ^ 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): 33–36. doi:10.1097/01.nrl.0000252953.49721.f5. PMID 17215725.  

See also

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