A 33-year-old woman was presented with stereotypic choreic movements. These uncontrollable movements had begun 6 years earlier. Initially, it had affected only her limbs but later extended to trunk and neck. These tremors were absent when she was asleep or was exacerbated by stress. The patient had hypotonic and dysarthric speech. Her sister, father, and grandmother had also experienced unspecified abnormal body movements during the fourth decade, followed by dementia, and death within 10 years of the onset of symptoms.
Examination The patient had normal mental status, normal rectal sphincter tone, and hyperactive tendon reflexes. MRI revealed atrophy of the caudate nucleus and putamen with enlarged ventricles. What is the most likely diagnosis? *This case is from Docplexus editorial team for educative purpose only. Source: NEJM Stay connected, the answer will be posted in the next 48h!
