Educational Rare Disease Campaign:
Angelman Syndrome is a rare genetic disorder that is characterized by a variety of signs and symptoms. Characteristic features of this disorder include delayed development, intellectual disability, severe speech impairment, problems with movement and balance, seizures, sleep disorders and anxiety. AS is hard to diganose as each patient presents themselves with different clinical manifestations of the disorder. Misdiagnosis is a real issue for patients and caregivers with many seeing multiple clinicians who never connect the dots to properly diagnose AS.
This campaign seeks to educate HCPs as to the links between presentation of multiple symptoms and how the use of a genetic test can diagnose suspected Angelman Syndrome.