Progressive external ophthalmoplegia
- Progressive external ophthalmoplegia
Infobox_Disease
Name = Progressive external ophthalmoplegia
Caption =
DiseasesDB = 29124
ICD10 = ICD10|H|49|4|h|49
ICD9 = ICD9|378.72
ICDO =
OMIM = 157640
MedlinePlus =
eMedicineSubj = oph
eMedicineTopic = 510
MeshID = D017246
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. Fact|date=January 2008 However, in most cases, PEO occurs due to a sporadic deletion or duplication within the mitochondrial DNA. [cite journal |author=Zeviani M, Di Donauto S |title=Mitochondrial disorders |journal=Brain |volume=127 |issue=10 |pages=2153–2172 |year=2004 |pmid=15358637 |doi=10.1093/brain/awh259] 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,[cite journal |author=Caballero PE, Candela MS, Alvarez CI, Tejerina AA |title=Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature |journal=Neurologist |volume=13 |issue=1 |pages=33–36 |year=2007 |pmid=17215725 |doi=10.1097/01.nrl.0000252953.49721.f5] but experimental agents such as coenyzme Q10 may provide benefit. (Reference needed.)]References
See also
*Ophthalmoparesis
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Look at other dictionaries:
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