Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits. Angelman syndrome is caused by deletion or abnormal expression of the UBE3A gene (ubiquitin protein ligase E3A).
National Organization for Rare Disorders (NORD) with assistance of Charles Williams, MD, Updated Emeritus Professor, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine; member of the Angelman Syndrome Foundation Scientific Advisory Committee.
At this time, therapies for Angelman syndrome are symptomatic and supportive. Several clinical trials on Angelman syndrome are ongoing (see below) but there is no genetic therapy or curative medication available. Advances in neuroscience and in gene therapy techniques however hold great potential for providing meaningful treatment and/or cure of the syndrome.
The general physical health of those with Angelman syndrome is good and usual pediatric care, including customary childhood immunizations, can be provided.
References
- What is Angelman syndrome? from the Cleveland Clinic. Symptoms and Causes, Diagnosis and Tests, Management and Treatment, Prevention Outlook / Prognosis, Living With. New
- UBE3A gene – ubiquitin protein ligase E3A from the U.S. National Library of Medicine. Updated
- University of Florida, Division of Genetics and Metabolism, Dept. of Pediatrics in the College of Medicine
- Angelman Syndrome Foundation, Inc.
- Foundation for Angelman Syndrome Therapeutics (FAST)
- Canadian Angelman Syndrome Society
- Epilepsy Foundation
- Genetic and Rare Diseases (GARD) Information Center
- NIH/National Institute of Child Health and Human Development
- NIH/National Institute of Neurological Disorders and Stroke
- The Arc
For More Information
Learn more about genetics on our Genetic Disorders page.
Synonyms of Angelman Syndrome
- AS
- happy puppet syndrome (obsolete)
