Movement Disorders: The Daily PANCE Blueprint

Movement Disorders: The Daily PANCE Blueprint

A 52-year-old woman presents to the neurology clinic with progressive difficulties in motor coordination and cognitive function over the past 18 months. She reports involuntary movements, especially in her limbs, memory lapses, and significant changes in mood, including increased irritability and impulsivity. Her family history is notable for a father who died in his 50s from a similar neurodegenerative condition. The patient’s social history is unremarkable. Neurological examination reveals choreiform movements, impaired balance, and decreased cognitive abilities. Which of the following tests is the most appropriate to confirm the suspected diagnosis?

A. Brain MRI
B. Serum ceruloplasmin level
C. Genetic testing
D. Lumbar puncture
E. EEG (electroencephalogram)

Answer and topic summary

The answer is C. Genetic testing

Genetic testing for the HTT gene is the most appropriate test to confirm a diagnosis of Huntington’s disease. Huntington’s disease is an autosomal dominant neurodegenerative disorder characterized by chorea, cognitive decline, and psychiatric symptoms. The condition typically presents in mid-adulthood and is confirmed through genetic testing that identifies the expanded CAG repeat in the HTT gene. Brain MRI may show atrophy in the caudate nucleus and putamen, but it is not confirmatory. Serum ceruloplasmin level is used to diagnose Wilson’s disease, which can present with similar neurological symptoms but is not the most likely diagnosis given the family history and symptomatology. Lumbar puncture and EEG are not typically used to diagnose Huntington’s 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

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