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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) It is an autosomal dominant inherited disorder
 
        B) It is associated with a defect in the alpha-galactoidase gene
 
        C) It is an autosomal recessive inherited disorder
 
        D) It is also known as metchromatic leukodystrophy
 
        E) Nerve conduction studies usually show a pattern of axonal loss
 

 


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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) it is an autosomal dominant inherited disorder

This answer is incorrect.


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

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B) 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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C) 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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D) it is also known as metchromatic leukodystrophy

This answer is incorrect.


Fabry disease is also called angiokeratoma corporis diffusum.  (See References)

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E) nerve conduction studies usually show a pattern of axonal loss

This answer is incorrect.


Fabry disease is associated with a painful peripheral senory neuropathy. Since the fibers affected are typically small myelinated and unmyelinated fibers, nerve conductions studies are usually normal.  (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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