Fabry Disease 01

Topic: Adult

Created on Tuesday, September 30 2008 by jdmiles

Last modified on Tuesday, September 30 2008.

 
        A) It is an X-linked inherited disorder
 
        B) It is an autosomal recessive inherited disorder
 
        C) It is an autosomal dominant inherited disorder
 
        D) Nerve conduction studies usually show a pattern of axonal loss
 
        E) Characteristic manifestations are painful sensory neuropathy, intracranial hemorrhage, and reddish-purple skin lesions
 

 

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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

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A) it is an X-linked inherited disorder

This answer is correct.

Fabry disease is an X-linked inherited disorder.  (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 an autosomal dominant inherited disorder

This answer is incorrect.

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

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D) 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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E) Characteristic manifestations are painful sensory neuropathy, intracranial hemorrhage, 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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References:

1. Daniel Dumitru, Anthony A. Mato, Machiel J. Zwarts, Daniel, Md. Dumitru, Anthony A. Amato, . Electrodiagnostic Medicine (Books). Hanley & Belfus (ISBN:1560534338)

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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