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ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed

Alice Innocenti1, Emmanuel Roze2,3, Florence Riant4

  • 1Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE, Rome, Italy.

Movement Disorders Clinical Practice
|June 12, 2025
PubMed
Summary

ADCY5-mosaic variants can present with milder symptoms than typical ADCY5 disorders, including paroxysmal dyskinesias. Early identification is key, as mosaicism may be overlooked in genetic testing.

Keywords:
ADCY5‐mosaicmixed movement disorder ADCY5 (MxMD‐ADCY5)paroxysmal dyskinesias (PxD)

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