A Case of Autosomal Recessive Dopa Responsive Dystonia (DRD) with GCH1 Gene Mutation

Abstract

Timely diagnosis of Segway’s disease is very important and neurologists should always consider it in the differential diagnosis of dystonia. Because the symptoms of this disease can be resolved with low doses of Levodopa and the patient can lead a normal life in the community. Another important issue is genetic counselling for these patients before marriage or pregnancy, the mode of inheritance and the risk of their children should be investigated and estimated. Here we present a case of Segawa patient who was challenging in genetic counselling.