Abstract

Dopa-responsive dystonia (DRD) is typically characterized by dystonia of the lower extremities beginning in childhood, with progression to involve the entire body, marked worsening of symptoms during the day, improvement in symptoms with sleep, and a dramatic response to low-dose levodopa. Inheritance usually is autosomal-dominant. The affected gene encodes for the enzyme GTP-cyclohydrolase 1(GCH1); more than 70 …

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