Neurológia pre prax 3/2015

Clinical and genetic heterogenity of dopa-responsive dystonia

Dopa-responsive dystonia, one of the dystonia-plus syndromes, is a rare neurometabolic disorder caused by alteration of dopamine biosynthesis, mainly by mutation in GTP-cyclohydrolase I. gene. It is characterised by early onset dystonic gait with frequent generalisation, parkinsonism, diurnal fluctuation of the symptoms and excellent long-term levodopa-responsiveness without chronic motor complications of levodopa therapy. The disorder is genetically heterogeneous and therefore clinically often atypical. As an example it is presented a case report of the patient and her daughter detected with a new mutation in GTP-cyclohydrolase I. gene.

Keywords: dopa-responsive dystonia, dystonia, genetics, DRD-plus, case report.