Abstract: 　Objective　To explore the diagnosis and treatment of dopa-responsive dystonia induced by tyrosine hydroxylase deficiency. Method　The clinical manifestations, treatment, follow-up and gene test results of dopa-responsive- dystonia in a child was reviewed and analyzed. Results　A boy aged 2 years and 4 months had language and motor development retrogression and reduction of muscle tension in extremities. Gene mutation analysis showed two heterozygous pathogenic mutations, c.457>T, P.(Arg153*) in TH exon 4 which was inherited from father and c.739G>A, P.(Gly247Ser) in TH exon 7 which was inherited from mother. Thus, the boy was confirmly diagnosed with dopa-responsive dystonia caused by a mutation in the tyrosine hydroxylase gene. This patient had no significant improvement of symptoms with levodopa treatment, and has satisfactory curative effect after treated with benserazide. Conclusion　For unexplained dystonia, especially accompanied by damage to the extrapyramidal tract which is marked by the impairment of motor function with the onset in infancy, doparesponsive dystonia caused by tyrosine hydroxylase deficiency should be suspected. Gene detection is helpful in diagnosis, and benserazide had better effect than that of levodopa for treatment.