Rare Disease 7 - Angelman Syndrome

From Wikipedia:

Angelman syndrome is a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.  An older, alternative term for AS, happy puppet syndrome, is generally considered pejorative and stigmatizing so it is no longer the accepted term, though it is sometimes still used as an informal term of diagnosis. People with AS are sometimes known as "angels", both because of the syndrome's name and because of their youthful, happy appearance.

------------------
 The Angelman Syndrome Foundation is sponsoring:

 15 Ways to Celebrate the 15th

The Angelman Syndrome Foundation is excited to celebrate the first ever-International Angelman Day on February 15th.
To help raise awareness for Angelman syndrome across the world and in your hometown, the ASF has developed a list of 15 simple things you can do to contribute.
With your help, we can all give them a reason to smile.

Here is a video from 2010 showing some of the faces of Angelman Syndrome and the symptoms of the disease.

 -----------------

AS is just one of 7,000 rare diseases, most without cures and very few treatments.  Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.

Rare Disease Day is February 28, 2013.