Dopa-Responsive Dystonia with Delay in Walking

A 2-year, 8-month old boy with a previous diagnosis of cerebral palsy was referred to UCSF because of “awkward” gait and “walking on the toes.” His gait abnormality progressed, worsening in the evening, and he was found to have a dopa-responsive dystonia caused by an autosomal-dominant GCH1 mutation. He was treated successfully with oral carbadopa-levodopa (Sinemet). Three other family members were affected, presenting with stiffness in the thighs, motor impairment, speech and swallowing difficulties, postural tremor and depressive anxiety, also responsive to carbadopa-levodopa. [1]