AANP Family Nurse Practitioner (FNP) Certification ExamDiagnosisHard
A 45-year-old female presents with a 2-month history of sudden, involuntary, jerky movements (chorea) of her face, trunk, and limbs. She also reports increasing irritability, depression, and difficulty with concentration. Her father had similar symptoms and died in his 50s. On examination, she exhibits motor impersistence (milkmaid's grip) and impaired rapid alternating movements. What is the most likely diagnosis?
- AWilson's Disease
- BHuntington's Disease
- CTourette Syndrome
- DParkinson's Disease
Show answer & explanationAnswer & explanation
Correct answer: B. Huntington's Disease
The patient's classic triad of chorea, cognitive decline (difficulty concentrating), and psychiatric symptoms (irritability, depression), combined with a strong family history and age of onset, are highly indicative of Huntington's Disease, an autosomal dominant neurodegenerative disorder.
Why the other options are wrong
- A. Wilson's Disease is a disorder of copper metabolism, presenting with various neurological symptoms (tremor, dystonia, dysarthria), psychiatric issues, and liver disease, but chorea is less common as the primary motor symptom, and Kayser-Fleischer rings would be expected.
- C. Tourette Syndrome involves motor and vocal tics, usually with childhood onset, and while it can have behavioral comorbidities, it does not typically present with progressive chorea or cognitive decline.
- D. Parkinson's Disease is characterized by bradykinesia, rigidity, tremor, and postural instability, not chorea or prominent psychiatric/cognitive changes in early stages.
Huntington's Disease
An inherited neurodegenerative disorder characterized by progressive motor (chorea), cognitive, and psychiatric symptoms, typically with onset in middle age.
- Autosomal dominant inheritance, caused by a CAG trinucleotide repeat expansion on chromosome 4.
- Classic triad: chorea, cognitive decline, and psychiatric disturbances.
- Progressive and ultimately fatal, with no cure.
Memory trick: HUNT: Hereditary, Uncontrolled movements (chorea), Neuropsychiatric, Thinking decline.