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Myoclonus in Angelman syndrome
Sarah F Pollack1, Olivia R Grocott1, Kimberly A Parkin1
1Angelman Syndrome Clinic, Massachusetts General Hospital, Boston, MA, United States.
Epilepsy & Behavior : E&B
|March 21, 2018
Summary
Myoclonic seizures are common in Angelman syndrome (AS) children, while nonepileptic myoclonus emerges in adolescence, impacting quality of life. Understanding these distinct movement disorders is crucial for effective management in AS patients.
Area of Science:
- Neurogenetics
- Neurology
- Developmental Disorders
Background:
- Angelman syndrome (AS) is a neurogenetic imprinting disorder resulting from the loss of the maternally inherited Ube3a gene.
- AS is characterized by epilepsy, speech and movement disorders, and sleep dysfunction.
- Myoclonic seizures are common early in AS, but prolonged nonepileptic myoclonus in older individuals is less understood.
Purpose of the Study:
- To identify and characterize myoclonic seizures and nonepileptic myoclonus in individuals with Angelman syndrome.
- To differentiate between epileptic and nonepileptic myoclonus in AS patients based on clinical and EEG findings.
- To investigate the prevalence and clinical features of nonepileptic myoclonus in older AS individuals.
Main Methods:
- Retrospective review of medical records from 200 individuals with AS.
- Analysis of seizure types, age of onset, clinical presentation, and electroencephalogram (EEG) findings.
- Distinguishing between myoclonic seizures and nonepileptic myoclonus based on EEG correlates and clinical characteristics.
Main Results:
- Myoclonic seizures occurred in 14% of AS individuals, typically before age 8, with EEG abnormalities.
- Nonepileptic myoclonus affected 40% of AS individuals over 10 years old, increasing with age.
- Nonepileptic myoclonus episodes, starting from puberty/adolescence, lacked EEG correlates and were refractory to treatment, impacting quality of life.
Conclusions:
- Myoclonic seizures are a common early feature of AS, linked to EEG changes.
- Nonepileptic myoclonus is a distinct, later-onset phenomenon in AS, lacking EEG correlates and posing treatment challenges.
- Differentiating these movement disorders is vital for appropriate management and improving quality of life in Angelman syndrome.
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