Huntington’s Disease: The Daily PANCE Blueprint

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Huntington's Disease: The Daily PANCE Blueprint

A 51-year-old male presents to the clinic. His wife explains his symptoms: brief, involuntary movements of his limbs, depression, and impaired thinking, and weight loss. Which of the following is the most likely diagnosis?

A. Parkinson disease
B. Multiple sclerosis
C. Alzheimer disease
D. Vascular dementia
E. Huntington's disease

Answer and topic summary

The answer is E. Huntington’s disease

Huntington’s disease is an autosomal-dominant disorder characterized by progressive neurodegeneration. It is due to the expansion of the cytosine-adenine-guanine (CAG) trinucleotide in the HTT gene. The main clinical features include choreiform movements, dementia, cognitive impairment, and psychiatric problems. Patients typically present during mid-life. Diagnosis is confirmed by genetic testing. A brain MRI may reveal caudate atrophy. Treatment is generally supportive and symptomatic. There is no cure for Huntington disease.

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Smarty PANCE Content Blueprint Review:

Covered under ⇒ PANCE Blueprint Neurology ⇒ Movement Disorders ⇒ Huntington Disease

Also covered as part of the Internal Medicine EOR topic list