Angelman syndrome
Angelman syndrome is a genetic disorder that primarily affects the nervous system. It is caused by a deletion or mutation of the UBE3A gene on chromosome 15. Individuals with this condition often experience developmental delays, speech impairments, and difficulties with movement and balance. They may also exhibit a happy demeanor, frequent laughter, and a tendency to have seizures.
Diagnosis typically occurs in early childhood, and while there is no cure, various therapies can help manage symptoms. Supportive treatments may include physical therapy, speech therapy, and educational interventions to improve quality of life for those affected by Angelman syndrome.