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A patient with cognitive and movement complaints 02

Topic: Adult

Created on Tuesday, September 23 2008 by jdmiles

Last modified on Tuesday, September 23 2008.

A 35 year-old male presents to your office accompanied by a family member, who helps provide the history. The patient has had a 2 year history of worsening neurologic and psychiatric issues, including memory problems and odd movements and uncharacteristic aggressive behavior. The patient is on metoprolol for hypertension, and has no other past medical history. The patient confirms that other family members have had similar symptoms, and some have died at an early age. On exam, you note generalized choreiform movements, slightly impaired memory, cognitive slowing, oculomotor dysfunction, and motor impersistence. CT of the brain is remarkable only for slight atrophy of the caudate bilaterally. The patient's diagnosis was confirmed by genetic testing, which showed a CAG trinucleotide repeat on chromosome 4.
Of the following statements, which is most accurate about this patient's disease?

 
        A) Decreased volume of the striatum is not diagnostic of this disease
 
        B) Typical life expectancy after clinical diagnosis with this disease is about 30 years
 
        C) Typical life expectancy after clinical diagnosis with this disease is about 40 years
 
        D) Cognitive decline is usually a late finding in this disease
 
        E) This disease does not affect swallowing
 

 


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This question was created on September 23, 2008 by jdmiles.
This question was last modified on September 23, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Decreased volume of the striatum is not diagnostic of this disease

This answer is correct.


This patient has Huntington disease (HD). While patients with HD often have decreased striatum volume which is visible on imaging, this finding is neither very specific nor very sensitive for HD.   (See References)

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B) Typical life expectancy after clinical diagnosis with this disease is about 30 years

This answer is incorrect.


This patient has Huntington disease (HD). HD is progressive and terminal. Once the clincial diagnosis is made, the typical life expectancy for a person with HD is about 20 years.   (See References)

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C) Typical life expectancy after clinical diagnosis with this disease is about 40 years

This answer is incorrect.


This patient has Huntington disease (HD). HD is progressive and terminal. Once the clincial diagnosis is made, the typical life expectancy for a person with HD is about 20 years.   (See References)

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D) Cognitive decline is usually a late finding in this disease

This answer is incorrect.


This patient has Huntington disease (HD). Cognitive decline is often evident by the time the patient presents with other clinical findings.   (See References)

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E) This disease does not affect swallowing

This answer is incorrect.


This patient has Huntington disease (HD). Dysphagia is common in this disease, and many patients with HD eventually die from dysphagia or aspiration.   (See References)

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References:

1. Walker, F.O. (2007). "Huntington's Disease." Semin Neurol, 27(2) 143-50. (PMID:17390259)
2. Walker, F.O. (2007). "Huntington's disease." Lancet, 369(9557) 218-28. (PMID:17240289)
3. Zaidat, O.O., and Lerner, A.J. (2002). The Little Black Book of Neurology, 4th Edition. Mosby, St. Louis (ISBN:0323014151) Advertising:
4. Bertelson, J.A., and Price, B.H. (2004). Depression and psychosis in neurological practice. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 103-116 (ISBN:0750674695). Advertising:
5. Shannon, K.M. (2004). Movement disorders. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 2125-2168 (ISBN:0750674695). Advertising:
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adult
A patient with cognitive and movement complaints 02
Question ID: 010108123
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 09/23/2008
Modified: 09/23/2008
Estimated Permutations: 49140000

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