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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 1 year history of worsening neurologic and psychiatric issues, including odd movements and memory problems and uncharacteristic irritability. The patient is on atorvastatin for dyslipidemia, 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, generalized choreiform movements, oculomotor dysfunction, motor impersistence, and slightly impaired memory. 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) There is currently no effective disease-modifying treatment for this disorder

B) Pathophysiology of this disease involves a polyalanine strand

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

D) This disease does not affect swallowing

E) The choreiform movements will worsen throughout the course of this disease

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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) There is currently no effective disease-modifying treatment for this disorder

This answer is correct.

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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B) Pathophysiology of this disease involves a polyalanine strand

This answer is incorrect.

This patient has Huntington disease (HD). Genetically, HD appears to be caused by a CAG trinucleotide expanding repeat on chromosome 4. This reults in a polyglutamine strand incorporated into the translated huntingtin protein. (See References)


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C) 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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D) 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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E) The choreiform movements will worsen throughout the course of this disease

This answer is incorrect.

This patient has Huntington disease (HD). Choreiform movements are a hallmark of this disease, but they often subside in the later stage of the disease, giving way to rigidity and dystonia. (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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A patient with cognitive and movement complaints 02

Topic: Adult

ANSWERS AND EXPLANATIONS

A) There is currently no effective disease-modifying treatment for this disorder This answer is correct.

B) Pathophysiology of this disease involves a polyalanine strand This answer is incorrect.

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

D) This disease does not affect swallowing This answer is incorrect.