This video shows a 55 year old woman with features of generalised involuntary movements, predominantly affecting facial muscles and upper limbs (distal > proximal). Involuntary movements consist of chorea and athetosis. Occasional facial tics are also seen. Her other clinical features were dementia and behavioural changes. There was a positive family history of similar illness. HD is an inherited autosomal dominant disease, and there is no cure at present. Patients are managed with anti-psychotic medications and symptomatic treatments for chorea.
MRI brain showed bilateral caudate nucleus atrophy with dilated frontal horns of lateral ventricles. Genetic testing confirmed a diagnosis of Huntington’s disease (HD). HTT gene showed approximately 17 and 43 CAG repeats.
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