Autosomal recessive inheritance of ADCY5 -related generalized dystonia and myoclonus

Abstract excerpt

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.

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genomics and Rare Diseases
• Share to Glycogen Storage Diseases and Myoclonus
• Share to Neurological disorders and treatments