What is Angelman syndrome?
Named after Dr. Harry Angelman, an English physician who discovered the syndrome, Angelman syndrome (AS) is a rare neuro-genetic disorder. It occurs in one in 15,000 live births. Angelman syndrome is often misdiagnosed as cerebral palsy or autism due to lack of awareness.
Characteristics or symptoms of Angelman syndrome include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.
Because of its genetic relationship to autism and other disorders, many researchers believe that curing Angelman syndrome will lead to cures for similar disorders. Angelman syndrome research is on the cusp of potential treatments to reverse the debilitating symptoms of Angelman syndrome.
For more information about signs, symptoms and characteristics of Angelman syndrome, watch the story of Ever and her journey to diagnosis.