Clinical analysis of special cases with dopa responsive dystonia confirmed by genetic detection / 中华神经科杂志

ABSTRACT

Objective To investigate the efficiency of levodopa in dopa responsive dystonia (DRD) patients and drugs safety in pregnancy cases confirmed by genetic detection.Methods The clinical characteristics of two patients were analyzed.Direct sequences were performed in guanosine triphosphate (GTP) cyclohydrolase Ⅰ (GCH1) gene and tyrosine hydroxylase (TH) gene mutation screening.Results Case 1 was a young man exhibiting writer's cramp and dystonia of lower legs with marked diurnal fluctuation.Writer's cramp could not be relieved by treatment of low dose levodopa/benserazide.After increasing dose,the symptom of writer's cramp appeared occasionally.Case 2 was a young woman who experienced gait disorder.The symptom disappeared completely by levodopa treatment.She used levodopa and benzhexol during pregnancy.By 38 gestational weeks,she gave birth to a healthy baby.Sequence analysis of GCH1 gene in case 1 revealed a mutation (c.230C ＞ G p.S77C) that is a novel pathogenic mutation.The confirmed mutation c.628delC (p.His210Thrfs* 5) found in case 2 had been reported previously.No mutations in TH gene were detected in two patients.Condnsions Most of DRD patients have dramatic response to levodopa,but patients exhibited writer' s cramp may respond to levodopa incompletely.The previous reports indicate that no adverse events have been reported in DRD pregnant women with the monotherapy of levodopa.