Similarly, there has been progress in our understanding of the genetic underpinnings of the "dystonia-plus" syndromes: dopa-responsive dystonia (DRD), myoclonus-dystonia (M-D), and rapid-onset dystonia-parkinsonism (RDP).
Because of the occurrence of different types of mutations, comprehensive genetic testing for Parkinson's disease (PD), dopa-responsive dystonia (DRD), and myoclonus-dystonia (M-D) should include screening for small sequence changes and for large exonic rearrangements in disease-associated genes.
The dystonia-plus group is defined by the association of parkinsonism (dopa-responsive-dystonia and rapid-onset dystonia-parkinsonism) or myoclonus (myoclonus-dystonia).
Here we evaluate the inheritance of restriction fragment length polymorphisms near the DBH gene in families with four subtypes of hereditary dystonia: Jewish and non-Jewish, early onset, generalized idiopathic torsion dystonia (ITD); dopa-responsive dystonia; and myoclonic dystonia.