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Fabry Disease 01

Topic: Adult

Created on Tuesday, September 30 2008 by jdmiles

Last modified on Tuesday, September 30 2008.

Which of the following statements about Fabry disease is most accurate?

 
        A) Characteristic manifestations are intracranial hemorrhage, painful sensory neuropathy, and reddish-purple skin lesions
 
        B) It is an autosomal recessive inherited disorder
 
        C) It is associated with a defect in the alpha-galactoidase gene
 
        D) Characteristic manifestations are sensorimotor neuropathy, adrenal insufficiency, and atherosclerosis at an early age
 
        E) It is related to a defect on chromosome 5
 

 


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This question was created on September 30, 2008 by jdmiles.
This question was last modified on September 30, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Characteristic manifestations are intracranial hemorrhage, painful sensory neuropathy, and reddish-purple skin lesions

This answer is incorrect.


The characteristic manifestations of Fabry disease are atherosclerosis at an early age, painful sensory neuropathy, and reddish-purple skin lesions.  (See References)

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B) it is an autosomal recessive inherited disorder

This answer is incorrect.


Fabry disease is an X-linked inherited disorder.  (See References)

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C) it is associated with a defect in the alpha-galactoidase gene

This answer is correct.


Fabry disease is associated with a defect in the alpha-galactosidase gene.  (See References)

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D) Characteristic manifestations are sensorimotor neuropathy, adrenal insufficiency, and atherosclerosis at an early age

This answer is incorrect.


The characteristic manifestations of Fabry disease are atherosclerosis at an early age, reddish-purple skin lesions, and painful sensory neuropathy.  (See References)

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E) it is related to a defect on chromosome 5

This answer is incorrect.


Fabry disease is an X-linked inherited disorder.  (See References)

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References:

1. Daniel Dumitru, Anthony A. Mato, Machiel J. Zwarts, Daniel, Md. Dumitru, Anthony A. Amato, . Electrodiagnostic Medicine (Books). Hanley & Belfus (ISBN:1560534338) Advertising:
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adult
Fabry Disease 01
Question ID: 093008134
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 09/30/2008
Modified: 09/30/2008
Estimated Permutations: 514800

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