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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Causes Impaired Cognition, Dystonia And Dementia?

These are the symptoms I found in a patient: impaired cognition, dystonia, early onset, dementia, dysarthria, muscle plasticity, personality change, muscle twitch, loss of eye control And the disease was found to be recessively inherited via a DNA test. How do I know what the disease this patient has? (I am a student)
posted on Wed, 12 Nov 2014
Twitter Sat, 25 Jun 2016 Answered on
Twitter Mon, 27 Jun 2016 Last reviewed on
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Neurologist,  's  Response
considering symptomatology and AR inheritance following are the differential
1. Neuroacanyhocytosis
2.Wilson disease
3. Some varieties of YOPD eg PARK 15.
4. NBIA
5. If it is not AR then also consider SCA 3 , DRPLA.
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What Causes Impaired Cognition, Dystonia And Dementia?

considering symptomatology and AR inheritance following are the differential 1. Neuroacanyhocytosis 2.Wilson disease 3. Some varieties of YOPD eg PARK 15. 4. NBIA 5. If it is not AR then also consider SCA 3 , DRPLA.