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Case Study #24: Huntington Disease



Jared Kensington | 40 years old


Chief Complaint: Jared presents with involuntary choreiform movements and cognitive impairment.


Medical History:

  • Positive family history of Huntington disease

  • No other significant medical history reported


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Nurse's Note: Jared exhibits rapid, jerky, involuntary movements consistent with chorea. He appears agitated and demonstrates difficulty in maintaining attention during conversation. Family members report progressive decline in cognitive function over the past year.


Vital Signs:

  • Blood pressure: 130/85 mmHg

  • Heart rate: 90 bpm

  • Respiratory rate: 18 breaths/min

  • Temperature: 98.5°F (36.9°C)


Provider Orders:

  • Perform neurological assessment.

  • Order MRI of the brain.

  • Start tetrabenazine (Xenazine) 25 mg orally twice daily for chorea.

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Question 1: What are the characteristic symptoms of Huntington disease?


Question 2: Why is tetrabenazine prescribed for chorea in Huntington disease?


Question 3: What is the role of genetic counseling in Huntington disease?

Answers to Questions Below




Answers

Question 1: What are the characteristic symptoms of Huntington disease?

Huntington disease is characterized by a triad of symptoms: motor dysfunction (including chorea), cognitive impairment, and behavioral changes such as apathy and emotional lability.


Question 2: Why is tetrabenazine prescribed for chorea in Huntington disease?

Tetrabenazine is the only medication approved by the FDA to treat the symptom of chorea in Huntington disease. It works by depleting presynaptic dopamine stores, thereby reducing excessive dopamine neurotransmission and alleviating choreiform movements.


Question 3:What is the role of genetic counseling in Huntington disease?

Genetic counseling is crucial in Huntington disease to provide information about the risk of inheritance and help individuals and their families make informed decisions about genetic testing, family planning, and coping strategies. It also addresses concerns related to employment and healthcare discrimination.



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