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Dysphagia as a presenting symptom 01

Topic: Adult

Created on Sunday, September 28 2008 by jdmiles

Last modified on Sunday, September 28 2008.

An adolescent presents with complaints of dysphagia and dysarthria. The patient's father uncle reportedly has a history of muscle weakness that began similarly. On exam, there is wasting of the tongue, with fasciculations. The remainder of the exam is normal.
Of the following options, which is the most likely diagnosis?

 
        A) Kennedy disease
 
        B) Fazio-Londe syndrome
 
        C) Werdnig-Hoffman syndrome
 
        D) Kugelberg-Welander syndrome
 
        E) Spinal Muscular Atrophy type 2
 

 


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This question was created on September 28, 2008 by jdmiles.
This question was last modified on September 28, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Kennedy disease

This answer is incorrect.


Initial symptoms of Kennedy disease may include dysphagia and dysarthria. However, the onset is usually after 40 years of age.  (See References)

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B) Fazio-Londe syndrome

This answer is correct.


Fazio-Londe syndrome is a rare, autosomal recessive disease of motor neurons. Patients present in childhood or late adolescence with dysarthria and dysphagia. Weakness of the arms and legs may occur later in life.  (See References)

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C) Werdnig-Hoffman syndrome

This answer is incorrect.


Werdnig-Hoffman syndrome is a disease with infantile onset, and generally spares cranial nerve functions.  (See References)

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D) Kugelberg-Welander syndrome

This answer is incorrect.


Kugelberg-Welander syndrome typically presents with slowly progressive gait disorder. Fasciculations in the tongue can occur, but the presentation of dysphagia and dysarthria suggest a different diagnosis.  (See References)

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E) Spinal Muscular Atrophy type 2

This answer is incorrect.


Spinal Muscular Atrophy type 2 tends to present between 6 months to 1 year of age.  (See References)

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References:

1. Rowland, L.P. (Ed) (2000). Merritt's Neurology, 10th Edition. Lippincott Williams & Wilkins, Philadelphia. (ISBN:0683304747)Advertising:
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adult
Dysphagia as a presenting symptom 01
Question ID: 092808145
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 09/28/2008
Modified: 09/28/2008
Estimated Permutations: 120

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