Crowd-Sourcing Research into Nonepileptic Myoclonus in Angelman Syndrome

Quick Overview

Dr. Robert Carson presented at the 2022 FAST Science Summit on the topic of non-epileptic myoclonus (NEM) in Angelman Syndrome. NEM is characterized by spells of myoclonus, which can affect the hands, face, and whole body. These spells can last from seconds to hours and become more frequent as individuals with Angelman Syndrome age. Dr. Carson conducted a survey-based study to collect data on NEM, including video examples submitted by families. He presented these videos to a team of movement disorder specialists to determine the nature of the movements and potential treatment options. The study revealed a lack of consensus among specialists regarding the classification of the movements, with some identifying them as dystonia. This highlights the need for further research and clinical trials to better understand and treat NEM in Angelman Syndrome. Dr. Carson emphasized the importance of collecting more data and developing an organized approach to explore different treatment options. The success of the project is attributed to the families who contributed their data.


In a presentation at the 2022 FAST Science Summit, Dr. Robert Carson from the Vanderbilt Brain Institute discussed the importance of understanding and diagnosing non-epileptic myoclonus (NEM) in individuals with Angelman syndrome. NEM refers to paroxysms or spells of myoclonus, which are sudden, involuntary muscle jerks. Dr. Carson emphasized the need to collect data on NEM and explore potential treatments for this condition.

The Study

Dr. Carson’s study is based on a survey that collects demographic and descriptive information about NEM in Angelman syndrome. Families were also requested to submit video examples of NEM episodes. These videos were then presented to a team of movement disorder specialists who were asked to identify the type of movement and suggest potential treatments.

Understanding NEM in Angelman Syndrome

In Angelman syndrome, individuals may experience a variety of abnormal movements, including stereotypes (normal movements), tremors, seizures, ataxia, and NEM. NEM is characterized by spells of myoclonus that can affect the hands, face, and the entire body. These spells can last from seconds to hours and can significantly impact an individual’s daily life, causing difficulties with swallowing, walking, and emotional distress.

Challenges in Diagnosis

One of the challenges in diagnosing NEM in Angelman syndrome is the lack of consensus among healthcare providers regarding the terminology used to describe the condition. Different providers may use different names for the same type of movement, leading to confusion and potential misdiagnosis. This lack of clarity poses a significant challenge for future clinical trials, as it is crucial to have a standardized understanding of the condition being treated.

Video Evaluation by Movement Disorder Specialists

Dr. Carson presented a cohort of 20 videos to movement disorder specialists for evaluation. The specialists were asked to identify the type of movement and suggest appropriate treatments. The videos included a mix of stereotypies (normal movements) and NEM episodes. The evaluation revealed some disagreement among the specialists, highlighting the complexity of diagnosing NEM based solely on video footage. The lack of clinical context and the presence of other factors, such as spasticity, further complicated the evaluation process.

Implications for Treatment

The study’s findings suggest that NEM in Angelman syndrome may encompass different types of movements, including pure myoclonus and dystonic tremor. This distinction is important because different types of movements may respond to different treatments. Understanding these subtle differences opens up the possibility of exploring various medications that are already available and may be effective in treating NEM in Angelman syndrome.

Moving Forward

Dr. Carson emphasized the importance of continuing to collect data and video evaluations to further understand and classify NEM in Angelman syndrome. With a potential list of different types of movements and corresponding treatments, the challenge lies in implementing an organized approach to bring this information back to the clinic. The study’s progress and success are attributed to the families who have submitted data, making this crowd-sourcing research possible.

In conclusion, Dr. Carson’s study on NEM in Angelman syndrome highlights the need for further research and understanding of this condition. By collecting data and video evaluations, researchers can gain insights into the different types of movements and explore potential treatments. This collaborative effort between healthcare providers and families is crucial in improving the lives of individuals with Angelman syndrome affected by NEM.

Talk details

  • Title: Crowd-Sourcing Research into Nonepileptic Myoclunus in Angelman Syndrome
  • Author(s): Robert Carson
  • Author(s)’ affiliation: Vanderbilt Brain Institute
  • Publication date: 2022-12-15
  • Collection: 2022 FAST Science Summit