Kearns-Sayer syndrome: Difference between revisions
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'''Synonyms:''' Kearns Syndrome, Kearn-Sayre Mitochondrial Cytopathy, Kearns' Syndrome, Kearns-Sayre-Shy-Daroff Syndrome | '''Synonyms:''' Kearns Syndrome, Kearn-Sayre Mitochondrial Cytopathy, Kearns' Syndrome, Kearns-Sayre-Shy-Daroff Syndrome | ||
==Overview== | |||
'''Kearns-Sayer syndrome''' is a mitochondrial disorder featuring the triad of: <ref>Adams et al., Principles of Neurology, 6th ed, p984</ref> | '''Kearns-Sayer syndrome''' is a mitochondrial disorder featuring the triad of: <ref>Adams et al., Principles of Neurology, 6th ed, p984</ref> | ||
* | * Chronic progressive external [[ophthalmoplegia]] | ||
* [[ | * [[Cardiomyopathy]] with [[heart block]] | ||
* [[Retinitis pigmentosa]] | * [[Retinitis pigmentosa]] | ||
==Diagnosis== | |||
Disease onset is in the first or second decade. | Disease onset is in the first or second decade. | ||
* Elevated CSF protein | Diagnostic features include: | ||
* | * Elevated [[CSF]] protein | ||
* [[ | * Sensorineural [[deafness]] | ||
* | * [[Seizure]]s | ||
* [[Pyramidal signs]] | |||
* Ragged-red fibers are found on muscle biopsy. | * Ragged-red fibers are found on muscle biopsy. | ||
{{SIB}} | {{SIB}} | ||
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[[Category:Genetics]] | [[Category:Genetics]] | ||
[[Category:Cardiology]] | [[Category:Cardiology]] | ||
[[Category:Neurology]] | |||
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{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
Revision as of 09:52, 9 January 2009
| Kearns-Sayer syndrome |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Synonyms: Kearns Syndrome, Kearn-Sayre Mitochondrial Cytopathy, Kearns' Syndrome, Kearns-Sayre-Shy-Daroff Syndrome
Overview
Kearns-Sayer syndrome is a mitochondrial disorder featuring the triad of: [1]
- Chronic progressive external ophthalmoplegia
- Cardiomyopathy with heart block
- Retinitis pigmentosa
Diagnosis
Disease onset is in the first or second decade.
Diagnostic features include:
- Elevated CSF protein
- Sensorineural deafness
- Seizures
- Pyramidal signs
- Ragged-red fibers are found on muscle biopsy.
- ↑ Adams et al., Principles of Neurology, 6th ed, p984