Fabry Disease 01

Topic: Adult

Created on Tuesday, September 30 2008 by jdmiles

Last modified on Tuesday, September 30 2008.

 
        A) It is an autosomal recessive inherited disorder
 
        B) It is also known as metchromatic leukodystrophy
 
        C) It is related to a defect on chromosome X
 
        D) Nerve conduction studies usually show a demyelinating pattern
 
        E) Characteristic manifestations are reddish-purple skin lesions, sensorimotor neuropathy, and atherosclerosis at an early age
 

 

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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 autosomal recessive inherited disorder

This answer is incorrect.

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

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B) 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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C) it is related to a defect on chromosome X

This answer is correct.

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

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D) nerve conduction studies usually show a demyelinating pattern

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 reddish-purple skin lesions, sensorimotor neuropathy, 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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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