Angelman syndrome
Angelman syndrome (AS) is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems. Gastrointestinal, orthopedic, and eye problems also are often present.
Clinical features[edit | edit source]
Infants with AS appear normal at birth but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6-12 months.
Progression[edit | edit source]
Seizures often begin between 2-3 years of age and occur in 80-85 percent of those with AS. Features that help define the syndrome include very happy demeanor with frequent laughter, poor balance, tremor, and minimal to no speech.
Cause[edit | edit source]
The disorder results from the absence of the UBE3A gene inherited from the mother. The gene provides instructions for a protein that plays a critical role in the normal development and function of the nervous system.
Prognosis[edit | edit source]
Fair. Most individuals with Angelman syndrome will have significant developmental delays, speech limitations, and motor difficulties, but they understand much of what is said and often learn to communicate non-verbally and by using communication devices. T
Treatment[edit | edit source]
Symptomatic and supportive
Sources and external links[edit | edit source]
Syndrome-Information-Page Angelman Syndrome at NINDS
Angelman syndrome Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Paulette Schank, Prab R. Tumpati, MD