Huntington’s Disease (HD)


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.

T1W Axial MRI brain showing bilateral caudate nucleus atrophy
FLAIR Axial MRI brain showing bilateral caudate nucleus atrophy
Genetic testing report

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.

Published by Dr Sudhir Kumar MD (Medicine) DM (Neurology)

I am a doctor with 25 years experience. I have worked as a neurologist for about 20 years. Educating public and healthcare professionals is very dear to me. This is possible due to my interactions with thousands of patients and their caregivers. I salute the patients who suffer and it is our duty to minimise suffering by preventing diseases and ensuring prompt diagnosis and treatment of those already affected.

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