Huntington's disease(HD) is an autosomal dominantly inherited neurodegenerative disease, which is characterized by choreic movement and progressive dementia. HD is a disease caused by CAG repeat expansion of huntintin gene and definitely diagnosed or is excluded by molecular genetic analysis. Juvenile HD, of which onset is in children or young adult, is the most severely disabled type and shows several distinct clinical and genetic features in contrast to usual late-onset type. We report a 10 year-old girl who presented with involuntary movement, seizure and moderate dysarthria confirmed by molecular genetic analysis.
Child ; Chorea ; Dementia ; Dysarthria ; Dyskinesias ; Female ; Humans ; Molecular Biology ; Neurodegenerative Diseases ; Seizures ; Young Adult