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- W2507171404 abstract "Huntington’s disease is a rare condition in our country, in which we do not have the means for genetic study in order to confirm the disease. We are going to describe two cases with the genetic, clinic and radiologic studies confirming the diagnosis. Huntington’s disease is a hyperkinetic disorder with a low prevalence in Bolivia. Due to the lack of genetic studies that would allow us to detect the number of Huntingtin’s repeats , the semiology and family backgrounds becomes extremely important in order to make the diagnosis. Huntington’s chorea is a neurodegenerative and autosomal dominant disease which tends to appear in middle age patients with an average survival of 15 to 20 years. The semiology characterized itself by involuntary movements on the extremities, facial muscles, gait abnormalities, akinesia, hypokinesia, rigidity, language abnormalities, tic, dystonia and sometimes also cerebellar associations. The most meaningful symptoms are often psychiatric, which sometimes leads to admission into psychiatric institution. I one of our cases the symptoms present in an average median age with psychiatric alterations treated for seven years until the choreic movements appeared and the genetic studies were done confirming the diagnosis. The mother has had the symptoms and, the brother and grandfather were also positive for genetic testing. The second patient became symptomatic also at an average median age. The symptoms were hyperkinetic movements and psychiatric alterations with early cognitive deterioration. The genetic testing confirmed the diagnosis and with him five more relatives were positive for Huntington’s disease." @default.
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- W2507171404 date "2015-10-01" @default.
- W2507171404 modified "2023-10-18" @default.
- W2507171404 title "Huntington's disease two cases" @default.
- W2507171404 doi "https://doi.org/10.1016/j.jns.2015.08.939" @default.
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