Progressive external ophthalmoplegia
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| Progressive external ophthalmoplegia Classification and external resources |
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| ICD-10 | H49.4 |
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| 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.
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[edit] 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.
[edit] Genetics
Both autosomal dominant and autosomal recessive inheritance can occur, autosomal recessive inheritance being more severe.[citation needed] However, in most cases, PEO occurs due to a sporadic deletion or duplication within the mitochondrial DNA. [1] A transmission from the mother to the progeny appears only in few cases.
[edit] Diagnosis
It is usually diagnosed by neurologists.
[edit] Prognosis
There is no proven treatment,[2] but experimental agents such as coenyzme Q10 may provide benefit. (Reference needed.)
[edit] References
- ^ Zeviani M, Di Donauto S (2004). "Mitochondrial disorders". Brain 127 (10): 2153–2172. doi:. PMID 15358637.
- ^ 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:. PMID 17215725.
[edit] See also
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