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- W2154444105 abstract "Huntington's disease (HD) is a rare dominantly inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary (choreic) movements, neuropsychiatric manifestations, and dementia. It is caused by an unstable CAG repeat expansion in the gene IT15 which encodes a Huntingtin protein. We present a case of a 9 year old boy who had developmental regression starting from the age of 8 years of age along with resistant seizures and signs of cerebellar involvement with absence of chorea and is on anticonvulsants, baclofen, and tetrabenzine. As is expected in a case of childhood-onset HD, our patient is rapidly deteriorating and is currently in the terminal phase of his illness along with resistant convulsions." @default.
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- W2154444105 date "2015-01-01" @default.
- W2154444105 modified "2023-09-27" @default.
- W2154444105 title "Childhood-onset (Juvenile) Huntington′s disease: A rare case report" @default.
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- W2154444105 doi "https://doi.org/10.4103/1817-1745.165709" @default.
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