Myoclonic Dystonia: A Common Phenomenology in the Pleomorphic Movements of Angelman Syndrome
These data reinforce that dystonia is a common finding in people with AS, often in combination with myoclonus. The identification of both isolated dystonia and myoclonic dystonia in people with AS may suggest therapeutic options that heretofore may not have been widely considered.
Authors
- Bhooma R. Aravamuthan (ORCID: https://orcid.org/0000-0003-0205-2149)
- Heather Riordan
- Robert P. Carson (ORCID: https://orcid.org/0000-0002-0430-0831)
- John Fang (ORCID: https://orcid.org/0000-0002-7660-5191)
- Andrew Giritharan
- David A. Isaacs (ORCID: https://orcid.org/0000-0002-9860-1052)
- Brittany Short
- Joanna Blackburn (ORCID: https://orcid.org/0000-0002-4607-4641)
- Thomas L. Davis
Institutions
- Lurie Children's Hospital (US)
- Kennedy Krieger Institute (US)
- Monroe Carell Jr. Children's Hospital (US)
- Washington University in St. Louis (US)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2025-05-02
- DOI
- https://doi.org/10.1002/mdc3.70106
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Angelman Syndrome Foundation