GCH1 and dystonia 5: Pathological findings have been reported in four symptomatic female cases (age at death: Case 1; 19 years3, 8, 38), Case 2; 68 years38), Case 3; 77 years43, 44), and Case 4; 90 years45)) with typical GTPCH-deficient DRD, one asymptomatic female case (55 years39)) with a GCH1 variant (in an autosomal- dominant DRD family linked to the GCH1 locus7)), and one male patient (49 years31, 46)) with typical TH-deficient DRD.