Abstract

Huntington disease (HD) is a neurodegenerative, dominantly inherited genetic disorder caused by the expansion of a CAG triplet repeat (> 36 CAG) of the Huntington gene on chromosome 4p16.3. The juvenile variant of the disorder is rare (5 to 7%) and shows a phenotype with myoclonic jerks, seizures, behavioral disturbances, ataxia, dystonia, and parkinsonism. Choreatic movements are rare.

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