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Topic: Adult

Created on Thursday, October 23 2008 by rednucleus

Last modified on Thursday, October 23 2008.

A 26-year-old man visits the physician's office with excessive day time sleepiness. His face is long, thin, and has bilateral ptoses without frontalis overaction but there no is ocular weakness. He is wearing a wig. Which one of the following is inconsistent with the diagnosis of myotonia dystrophica?

 
        A) Recurrent syncope
 
        B) Fasting blood sugar of 190 mg/dl
 
        C) Normal nerve conduction studies
 
        D) Minimental status examination score of 20
 
        E) High serum LH and FSH
 

 


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This question was created on October 23, 2008 by rednucleus.
This question was last modified on October 23, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Recurrent syncope

This answer is incorrect.


Cardiac involvement can result in conduction disturbances and dysrrhythmias which can be worsened by procainamide (used for myotonia).  (See References)

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B) Fasting blood sugar of 190 mg/dl

This answer is incorrect.


Diabetes can occur in 10-20% of cases; be ready to see diabetic retinopathy changes in those patients!  (See References)

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C) Normal nerve conduction studies

This answer is incorrect.


Peripheral nerves are intact in myotonia dystrophica; however, the EMG is myopathic with dive-bomber myotonic discharges.  (See References)

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D) Minimental status examination score of 20

This answer is correct.


Myotonia dystrophica is not a dementing illness. The commonest extra-muscular manifestation is excessive day time sleepiness. Note that distal weakness and wasting can occur.  (See References)

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E) High serum LH and FSH

This answer is incorrect.


Testicular atrophy results in hypergonadotrophic hypogonadism.  (See References)

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References:

1. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York. (ISBN:0070674973)Advertising:
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adult
Release my hand, please!
Question ID: 102308130
Question written by rednucleus. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 10/23/2008
Modified: 10/23/2008
Estimated Permutations: 120

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