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Delayed Diagnosis of Dopa responsive Dystonia in Two Siblings. BACKGROUND: Dopa responsive dystonia is characterized by progressive disabling dystonia, diurnal variation and a dramatic response to Levodopa. CASE CHARACTERISTICS: Two siblings presented with regression of motor milestones and hypertonia in lower limbs. History of diurnal variation was present in elder sibling. OUTCOME: Both responded dramatically to Levodopa. The genomic DNA analysis of elder sibling revealed a novel mutation. MESSAGE: A trial of Levodopa should be considered in a child with motor regression with diurnal variation, in the presence of extrapyramidal features.