TH and dystonia 5: The phenotypes caused by TH gene mutation have been summarized as follows: (1) progressive infantile encephalopathy (22, 23), which refers to patients who mainly showed motor retardation, fluctuating extrapyramidal and autonomic symptoms that treatment with L-dopa could ameliorate symptoms but usually does not normalize (23), (2) classic DRD (24–26), and (3) L-dopa-responsive infantile parkinsonism with good response to L-dopa that was limited by dyskinesia, which refers to patients who had early-onset severe motor problems, including parkinsonism and myoclonic jerks (27).