Angelman Syndrome: Difference between revisions

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'''Description of Angelman Syndrome:'''
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'''Original Editor '''- Your name will be added here if you created the original content for this page.  
Complex genetic disorder affecting the nervous system. It is characterized by severe learning difficulties, motor dysfunction, seizure disorder, and often a happy, sociable disposition.
 
'''Prevalence:'''  
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Affects approximately 1 in 15,000 individuals (Margolis et al)
== Clinically Relevant Anatomy<br>  ==
'''Epidemiology/ Etiology:'''
 
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        -Onset is usually before the age of 3 (Margolis)
 
        -Caused by 4 molecular mechanisms (Kishino)
== Mechanism of Injury / Pathological Process<br>  ==
Maternal deletions of chromosome 15q11-q13 (70-80%)
 
Intragenic mutation in maternally inherited UBE3A which is found in chromosome 15q11-q13 (10-20%)
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Paternal uniparental disomy (UPD) in chromosome 15q11-q13 (3-5%)
 
Imprinting defects in chromosome 15q11-q13 which change the expression of  UBE3A (3-5%)
== Clinical Presentation  ==
Those with deletion have more severe disease and those with UPD and imprinting have less severe defects (Margolis)
 
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== Diagnostic Procedures  ==
 
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== Outcome Measures  ==
 
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== Management / Interventions<br>  ==
 
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== Differential Diagnosis<br>  ==
 
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== Resources <br> ==
 
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== References  ==
 
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Revision as of 21:03, 2 May 2018

Original Editor - Your name will be added here if you created the original content for this page.

Lead Editors  

Clinically Relevant Anatomy
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add text here relating to clinically relevant anatomy of the condition

Mechanism of Injury / Pathological Process
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Clinical Presentation[edit | edit source]

add text here relating to the clinical presentation of the condition

Diagnostic Procedures[edit | edit source]

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Outcome Measures[edit | edit source]

add links to outcome measures here (see Outcome Measures Database)

Management / Interventions
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add text here relating to management approaches to the condition

Differential Diagnosis
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add text here relating to the differential diagnosis of this condition

Resources
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add appropriate resources here

References[edit | edit source]