Progressive external ophthalmoplegia

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

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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, 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 is usually more severe.

Diagnosis

It is usually diagnosed by neurologists.

Prognosis

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

See also

Cost Effectiveness of Progressive external ophthalmoplegia

| group5 = Clinical Trials Involving Progressive external ophthalmoplegia | list5 = Ongoing Trials on Progressive external ophthalmoplegia at Clinical Trials.govTrial results on Progressive external ophthalmoplegiaClinical Trials on Progressive external ophthalmoplegia at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Progressive external ophthalmoplegia | list6 = US National Guidelines Clearinghouse on Progressive external ophthalmoplegiaNICE Guidance on Progressive external ophthalmoplegiaNHS PRODIGY GuidanceFDA on Progressive external ophthalmoplegiaCDC on Progressive external ophthalmoplegia


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| group10 = Newstories on Progressive external ophthalmoplegia | list10 = Progressive external ophthalmoplegia in the newsBe alerted to news on Progressive external ophthalmoplegiaNews trends on Progressive external ophthalmoplegia


| group11 = Commentary on Progressive external ophthalmoplegia | list11 = Blogs on Progressive external ophthalmoplegia

| group12 = Patient Resources on Progressive external ophthalmoplegia | list12 = Patient resources on Progressive external ophthalmoplegiaDiscussion groups on Progressive external ophthalmoplegiaPatient Handouts on Progressive external ophthalmoplegiaDirections to Hospitals Treating Progressive external ophthalmoplegiaRisk calculators and risk factors for Progressive external ophthalmoplegia


| group13 = Healthcare Provider Resources on Progressive external ophthalmoplegia | list13 = Symptoms of Progressive external ophthalmoplegiaCauses & Risk Factors for Progressive external ophthalmoplegiaDiagnostic studies for Progressive external ophthalmoplegiaTreatment of Progressive external ophthalmoplegia

| group14 = Continuing Medical Education (CME) Programs on Progressive external ophthalmoplegia | list14 = CME Programs on Progressive external ophthalmoplegia

| group15 = International Resources on Progressive external ophthalmoplegia | list15 = Progressive external ophthalmoplegia en EspanolProgressive external ophthalmoplegia en Francais

| group16 = Business Resources on Progressive external ophthalmoplegia | list16 = Progressive external ophthalmoplegia in the MarketplacePatents on Progressive external ophthalmoplegia

| group17 = Informatics Resources on Progressive external ophthalmoplegia | list17 = List of terms related to Progressive external ophthalmoplegia


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