Patient 2 switched from a choreic/dystonic phenotype in childhood to a clinical and electrophysiological picture consistent with myoclonus-dystonia in his late teens, and was in fact previously tested for DYT11 mutations; however, the presence of pyramidal signs in the lower limbs and delayed milestones in infancy were not consistent with the classic myoclonus-dystonia phenotype due to DYT11 mutations. The gene discussed is SGCE; the disease is Dystonia.