Inter and intra-generational phenotypic variability in a Portuguese family with DYT-GCH1

DYT-GCH1 is the most common form of Dopa-responsive dystonia. We analysed a three-generation Portuguese family with the same variant of DYT-GCH1. Dystonia and parkinsonism were found, along with non-motor symptoms. There was a wide array of phenotypic manifestations. Further studies are needed to explain the wide clinical expression of this entity.

Automated summary

DYT-GCH1 is the most common form of Dopa-responsive dystonia. A three-generation Portuguese family with the same variant of DYT-GCH1 was analyzed, showing a wide array of phenotypic manifestations including dystonia, parkinsonism, and non-motor symptoms. Further studies are needed to explain the wide clinical expression of this entity.