Abstract
Background/Purpose: Mutations in the ADCY5 gene are the cause of a rare childhood-onset, hyperkinetic movement disorder including variably pronounced chorea, myoclonus and dystonia, often with oro-facial myoclonus. Expanding the clinical spectrum of mutations in the ADCY5 gene, we present two boys with a new phenotype reminiscent of alternating hemiplegia of childhood (AHC).
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