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Monoallelic ADCY5 mutations have been associated with a benign hereditary chorea-like phenotype and a mixed hyperkinetic syndrome with dystonia, chorea, and myoclonus.1–4 We report 2 siblings with generalized dystonia and myoclonus associated with biallelic pathogenic variants in ADCY5 inherited in an autosomal recessive pattern.

Autosomal recessive inheritance of ADCY5 -related generalized dystonia and myoclonus