Hiding in Plain Sight: Dystonia in Angelman Syndrome

Quick Overview

Dr. Robert Carson from Vanderbilt University discussed the issue of dystonia in Angelman Syndrome during the 2023 FAST Science Summit. Dystonia is a movement disorder characterized by abnormal muscle contractions that cause repetitive or twisting movements. Dr. Carson’s study, which relied on survey data and videos, found that a significant percentage of individuals with Angelman Syndrome exhibited movements consistent with dystonia. The study also highlighted the underutilization of certain medications for treating dystonia in this population. Dr. Carson emphasized the importance of accurately identifying and understanding these movement disorders in order to improve treatment options and participate in clinical trials.

Introduction

Dr. Robert Carson from Vanderbilt University addressed the audience at the 2023 FAST Science Summit to shed light on the significant issue of dystonia in Angelman Syndrome. He discussed the challenges in understanding and identifying dystonia in individuals with Angelman Syndrome and highlighted the importance of research in this area.

The Study Approach

Dr. Carson explained that due to the limitations imposed by the COVID-19 pandemic, the study was conducted using a survey-based approach. Participants were asked to submit surveys and videos to provide a comprehensive understanding of the abnormal movements associated with Angelman Syndrome. The goal was to analyze the data and identify the specific movements observed at home.

Prevalence of Dystonia

Dr. Carson shared the findings of the study, revealing that approximately one-third of the submissions reported three or more abnormal movements. When videos were available for analysis, 45% of the cases showed movements consistent with dystonia. This was a significant finding, as a previous study had reported that 93% of adults with Angelman Syndrome exhibited movements consistent with dystonia.

Importance of Recognizing Dystonia

While some movements associated with Angelman Syndrome may be mild and not overly disruptive, Dr. Carson emphasized the importance of recognizing and understanding dystonia. He explained that these movements can provide insights into the mechanisms and brain regions involved in Angelman Syndrome. Unlike other movement disorders, the movements observed in Angelman Syndrome are more complex and require specific treatment approaches.

Treatment Options

Dr. Carson discussed the medications commonly used to treat dystonia and highlighted the underutilization of certain drugs in the Angelman Syndrome community. He noted that only a small percentage of patients had tried medications such as Sinemet, Ropinirole, and trihexyphenidyl. Dr. Carson emphasized the need for further research and exploration of treatment options for dystonia in Angelman Syndrome.

Video Examples

To provide a visual understanding of dystonia and related movements, Dr. Carson shared several video examples. These videos showcased different manifestations of dystonia, including posturing, tremors, and myoclonus. Dr. Carson highlighted the importance of video documentation in aiding diagnosis and treatment decisions.

Laugh-Related Spells

Dr. Carson also discussed a phenomenon known as gelastic events, where individuals with Angelman Syndrome experience spells of laughter that may be accompanied by other symptoms such as seizures or syncope. He encouraged families to communicate these experiences to healthcare providers to ensure comprehensive understanding and appropriate management.

Conclusion

Dr. Carson concluded his presentation by expressing gratitude to the families who participated in the study and shared their videos and survey responses. He emphasized the need for collaboration between pediatric and adult providers to capture data from the older population and facilitate potential clinical trials. Dr. Carson also highlighted the importance of asking the right questions to gather more information and improve understanding of movement disorders in Angelman Syndrome.