What is Angelman Syndrome

Angelman Syndrome is a rare genetic disorder that primarily affects the nervous system. It is characterized by developmental delays, intellectual disabilities, speech impairments, and a unique behavioral profile. Individuals with Angelman Syndrome often exhibit a happy demeanor, with frequent laughter and smiling.

The most prominent features of Angelman Syndrome include severe speech impairment or absence of speech, motor coordination difficulties, and a distinct gait with jerky movements. Seizures are also common among those with this syndrome. Additionally, individuals may experience sleep disturbances and exhibit hyperactivity.

Angelman Syndrome is caused by a genetic mutation or deletion on chromosome 15, usually inherited from the mother. This mutation affects the function of a specific gene responsible for producing a protein critical for normal brain development. The absence or dysfunction of this protein leads to the characteristic symptoms of Angelman Syndrome.

While there is currently no cure for Angelman Syndrome, treatment focuses on managing symptoms and improving quality of life. This may involve speech therapy, physical therapy, and medications to control seizures or behavioral issues.