Phenotypic features of severe familial generalized idiopathic torsion dystonia (ITD)

We present three patients affected by ITD belonging to a large Italian family. They were the only family members reportedly affected by dystonia. Index patient was a 5 2-year-old woman affected by generalized dystonia, started in the neck at the age of 40 years. In her 30year-old son the first symptom was spasmodic dysphonia (age at onset: 14 years). In her 26year-old daughter the first symptom was writer's cramp (age at onset: 11 years); in both the disease rapidly progressed to generalized ITD. It is remarkable that, in this family, anticipation of the age at symptoms onset between two generations occurred.