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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 40 year-old female presents to your office accompanied by a family member, who helps provide the history. The patient has had a 3 year history of worsening psychiatric and neurologic issues, including odd movements and memory problems and uncharacteristic apathy. The patient is on a stool softener for constipation, 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 cognitive slowing, oculomotor dysfunction, motor impersistence, slightly impaired memory, and generalized choreiform movements. 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) Clinical onset of symptoms usually occurs between 55 and 65 years of age

B) Typical life expectancy after clinical diagnosis with this disease is about 10 years

C) Typical life expectancy after clinical diagnosis with this disease is about 5 years

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

E) The earliest cognitive changes in this disorder usually involve executive function

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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) Clinical onset of symptoms usually occurs between 55 and 65 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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B) Typical life expectancy after clinical diagnosis with this disease is about 10 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 5 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) Clinical onset of symptoms usually occurs between 15 and 25 years of age

This answer is incorrect.


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E) The earliest cognitive changes in this disorder usually involve executive function

This answer is correct.

This patient has Huntington disease (HD). Cognitive and psychiatric changes are a uniform part of the clinical picture of HD. The most frequent initial cognitive symptom involves some impairment of executive function, and is often first noticed at the patient's workplace. (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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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
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A patient with cognitive and movement complaints 02

Topic: Adult

ANSWERS AND EXPLANATIONS

A) Clinical onset of symptoms usually occurs between 55 and 65 years of age This answer is incorrect.

B) Typical life expectancy after clinical diagnosis with this disease is about 10 years This answer is incorrect.

C) Typical life expectancy after clinical diagnosis with this disease is about 5 years This answer is incorrect.

D) Clinical onset of symptoms usually occurs between 15 and 25 years of age This answer is incorrect.