Angelman Syndrome

By Alex Shuffler

What is Angelman Syndrome?

Angelman syndrome is a genetic disorder that affects the nervous system. It is often characterized by developmental delay, ataxia, and extremely limited or no speech at all. Most who are effected by this have recurring seizures and a small size. The disease primarily affects the nervous system.

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Some of the symptoms of Angelman syndrome are delayed development, hand-flapping movements, hyperactivity, short attention span, fascination with water, and difficulty sleeping.


Angelman syndrome is caused by problems with a gene located on chromosome 15 called ubiquitin protein ligase E3A (UBE3A). When you receive your genes you get one copy from your mother and one from your father. Normally, only the maternal copy of UBE3A is active in the brain Angelman syndrome occurs when the maternal copy is missing or damaged.
A Story about Angelman Syndrome

Treatment for Angelman Syndrome

There is no cure for Angelman syndrome. But some treatments that help are physical therapy, communication therapy, and behavior therapy. Anti-seizure medication is needed to control the seizures.


Angelman syndromes' diagnosis requires taking a blood sample from your child. It also requires many genetic test. These test may look at the parental DNA pattern, missing chromosomes , or a gene mutation.
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Population Effects

It does not affect a certain ethnic group or a particular location. It is not very common in fact it is a very rare disease with fewer than 200,000 cases per year in the U.S.
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What I discovered...

There is no cure for Angelman syndrome right now and it is a very rare disease. Also that if you have something wrong with one of your chromosomes that you can get many genetic diseases/disorders. It was also discovered in 1965 by Dr. Harry Angelman. It is also called

"Happy Puppet Syndrome"

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Angelman's Syndrome - CRASH! Medical Review Series