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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 44 year-old female presents to your office accompanied by a family member, who helps provide the history. The patient has had a 1 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 slightly impaired memory, cognitive slowing, generalized choreiform movements, motor impersistence, and oculomotor dysfunction. MRI 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) This disorder has a higher prevalence among blacks than among caucasians or asians
 
        C) The degree of chorea is a reliable marker of the severity of this disease
 
        D) Early diagnosis can allow for intervention which can significantly extend a patient's life
 
        E) Clinical onset of symptoms usually occurs between 15 and 25 years of age
 

 


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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) This disorder has a higher prevalence among blacks than among caucasians or asians

This answer is incorrect.


This patient has Huntington disease (HD). Prevalence of HD among caucasians is approximately 10 cases per 100,000. Prevalence is much less in black and Asian populations.   (See References)

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C) The degree of chorea is a reliable marker of the severity of this disease

This answer is incorrect.


This patient has Huntington disease (HD). While chorea is a hallmark finding in HD, the degree of chorea does not correlate well with the severity of the disease. Some patients may only have mild or transient chorea during the course of the illness, and it is common for chorea to become less prominent in the late stages of the disease. Motor impersistence may be a better marker of disease severity.   (See References)

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D) Early diagnosis can allow for intervention which can significantly extend a patient's life

This answer is incorrect.


This patient has Huntington disease (HD). While research is ongoing, there is currently no effective treatment which will alter the course of this progressive and terminal illness.   (See References)

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E) Clinical onset of symptoms usually occurs between 15 and 25 years of age

This answer is incorrect.


This patient has Huntington disease (HD). Symptoms of HD usually begin between 35 and 45 years of age, but cases with onset as early as 2 years and as late as 92 years have been reported.   (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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