Kearns-Sayer syndrome: Difference between revisions

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Latest revision as of 16:41, 9 August 2012

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and Key Words: 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.

Template:WikiDoc Sources

↑ Adams et al., Principles of Neurology, 6th ed, p984

[1] Adams et al., Principles of Neurology, 6th ed, p984

[1]

@@ Line 1: / Line 1: @@
+{{Infobox_Disease |
-'''Synonyms:''' Kearns Syndrome,  Kearn-Sayre Mitochondrial Cytopathy,  Kearns' Syndrome,  Kearns-Sayre-Shy-Daroff Syndrome
+  Name           = {{PAGENAME}} |
+  Image          = |
+  Caption        = |
+  DiseasesDB     = |
+  ICD10          = |
+  ICD9           = |
+  ICDO           = |
+  OMIM           = |
+  MedlinePlus    = |
+  eMedicineSubj  = |
+  eMedicineTopic = |
+  MeshID         = |
+}}
+{{SI}}
-Kearns-Sayer syndrome is a mitochondrial disorder featuring the triad of:
+{{CMG}}
-chronic progressive
-EXTERNAL OPHTHALMOPLEGIA
-Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.')" onmouseout="HideBulle()" class="menudesc">external ophthalmoplegia,
+'''Synonyms and Key Words:''' Kearns Syndrome,  Kearn-Sayre Mitochondrial Cytopathy,  Kearns' Syndrome,  Kearns-Sayre-Shy-Daroff Syndrome
-cardiomyopathy (
-CARDIOMYOPATHIES
+==Overview==
+'''Kearns-Sayer syndrome''' is a mitochondrial disorder featuring the triad of: <ref>Adams et al., Principles of Neurology, 6th ed, p984</ref>
-A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).')" onmouseout="HideBulle()" class="menudesc">CARDIOMYOPATHIES) with conduction block,
+* Chronic progressive external [[ophthalmoplegia]]
-RETINITIS PIGMENTOSA
+* [[Cardiomyopathy]] with [[heart block]]
+* [[Retinitis pigmentosa]]
-Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.')" onmouseout="HideBulle()" class="menudesc">RETINITIS PIGMENTOSA.
+==Diagnosis==
+Disease onset is in the first or second decade.
-Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
+Diagnostic features include:
+* Elevated [[CSF]] protein
+* Sensorineural [[deafness]]
+* [[Seizure]]s
+* Pyramidal signs
+* Ragged-red fibers are found on muscle biopsy.
+[[Category:Genetics]]
+[[Category:Cardiology]]
+[[Category:Neurology]]
+{{WikiDoc Help Menu}}
+{{WikiDoc Sources}}

Kearns-Sayer syndrome: Difference between revisions

Latest revision as of 16:41, 9 August 2012

Overview

Diagnosis

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