Angelman Syndrome
Information Page |
NINDS is part of the
National Institutes of
Health
Table of Contents (click to jump to sections)
What is Angelman Syndrome?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
What is Angelman Syndrome?
Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman
first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements,
protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding
problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between
2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often
display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional
deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.
Is there any treatment?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
Angelman Syndrome Foundation 4255 Westbrook Drive Suite 219 Aurora, IL 60504 info@angelman.org http://www.angelman.org Tel: 630-978-4245 800-432-6435 Fax: 630-978-7408 |
The Arc of the United States 1010 Wayne Avenue Suite 650 Silver Spring, MD 20910 Info@thearc.org http://www.thearc.org Tel: 301-565-3842 Fax: 301-565-3843 or -5342 |
Prader-Willi Syndrome Association 5700 Midnight Pass Road Suite #6 Sarasota, FL 34242-3000 national@pwsausa.org http://www.pwsausa.org Tel: 941-312-0400 800-926-4797 Fax: 941-312-0142 |
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Last updated February 08, 2007