dopa-responsive dystonia

dopa-responsive dystonia
an inherited, progressive type of dystonia characterized by gait disorder that usually presents in childhood and shows pronounced diurnal variation, improving during sleep; signs of parkinsonism may be concurrent or subsequent, and there is dramatic response to administration of L-dopa. It is believed to be due to abnormal functioning of the basal ganglia and is most commonly caused by a defect in either the GCH1 gene (locus: 14q22.1-q22.2), which encodes GTP cyclohydrolase 1 (autosomal dominant inheritance), or the TH gene (locus: 11p15.5), which encodes tyrosine hydroxylase (autosomal recessive inheritance).

Medical dictionary. 2011.

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