Benign (non-paroxysmal) familial chorea. Paediatric perspectives

Abstract

We describe a non-progressive choreo-athetoid disorder of early onset, present in three families. There were no appreciable abnormalities in pregnancy, during the perinatal period, or in infancy. In each case the family history suggested transmission as an autosomal dominant trait, the gene showing diminished penetrance. Other families have been reported with the disorder and such titles as benign familial chorea, familial essential (benign chorea, or hereditary non-progressive chorea of early onset have been given to it. Our experience suggests that this is not a rare disorder, and that it is one likely to present in the paediatric age group; correct diagnosis is important so that unnecessary investigations are not undertaken, genetic counselling can be given, and proper management advice offered to families and schools.