Angelman syndrome
     
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Angelman Syndrome: A mommy to blame


Unlike Prader Willi Syndrome, this disease is caused by the female of a reproducing couple.  The problem comes from the same region as in Prader Willi but it is maternally marked instead of marked by the father.  People with this disease grow abnormally.  They have speech impairments and have very happy moods all the time

The inheritance of Angelman Syndrome

The inheritance of this disease is almost the same as in Prader Willi.  People with both diseases are missing the same region (11-13) on chromosome 15.  Neither of them pocesses the mRNA that is normally done there.  Also, both get it from just one parent, and got it because of genetic imprinting.  If they are both so similar, then the next question must be, then how do some get one disease and other people get another?  The answer is in imprinting.  For Angelman syndrome, mom's "mark" their chromosomes, and so chromosome 15 gets marked.  when a child gets chromosome 15 and it is missing segments 11-13, the child gets Angelman's Syndrome.

Symptoms of Angelman Syndrome

Children with Angelman Syndrome develope at a very slow rate.  They are so speech impaired that they can barely speak and must use other forms of communication.  Another symptom often seen is seizures while at very young ages.  A very noticeable symptom is their happy mood.  They are apparantly joyous and smiling.  They have a short attention span in addition to their slap-happy mood.

Detection of Angelman Syndrome

Just like with Prader Willi Syndrome, doctors can get a preliminary assesment of people and determine whether or not someone may be exhibiting symptoms of Angelman Syndrome.  Blood testing is the only way to know for sure if someone has the missing section of chromosome 15 and do indeed have Angelman Syndrome.  There is no cure for this disease, and treatment lies in the acceptance of the disease and learning to live with it.  Families must be supportives of the member with Angelman Syndrome.  Helping the person live their lives to the fullest is the best treatment out there as of now for the disease.