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What is Angelman Syndrome?
Angelman syndrome is a neurological disorder characterized by severe congenital
mental retardation, unusual facial appearance, and muscular abnormalities.
Symptoms of Angelman syndrome include unstable jerky gait, hand flapping,
unusually happy demeanor, developmental delay, lack of or diminished speech, and
microcephaly (small head). Epilepsy may develop in the early years of life,
however it may decrease with age. Patients may also have balance problems.
Is there any treatment?
There is no standard course of treatment for Angelman syndrome. Physical therapy
and adaptive devices may help patients with jerky gait. Early language
evaluation and intervention is often recommended. Anticonvulsant medications may
be prescribed for epilepsy.
What is the prognosis?
Most individuals with Angelman syndrome will have mental delay, severe speech
limitations, and some type of gait abnormality. Patients may have improvement of
symptoms with therapy.
What research is being done?
The NINDS supports research on Angelman syndrome. The purpose of this research
is to continue genetic analysis of the disorder by isolating and characterizing
the Angelman syndrome gene(s).
Organizations
Angelman Syndrome Foundation
414 Plaza Drive Suite 209
Westmont, IL 60559
info@angelman.org
http://www.angelman.org/
Tel: 800-IF-ANGEL (432-6435) 630-734-9267
Fax: 630-655-0391
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
National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
NICHDClearinghouse@mail.nih.gov
http://www.nichd.nih.gov/
Tel: 301-496-5133 800-370-2943
Source: National Institutes of Health; National Institute of
Neurological Disorders and Stroke
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