what is angelman syndrome

10 months ago 22
Nature

Angelman syndrome is a rare neuro-genetic disorder that primarily affects the nervous system. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother. The disorder is named after Dr. Harry Angelman who first reported the syndrome in 1965. People with Angelman syndrome have developmental problems that become noticeable by the age of 6-12 months, and other common signs and symptoms usually appear in early childhood, such as walking and balance disorders, gastrointestinal issues, seizures, and little to no speech. Despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor. The disorder shares symptoms and characteristics with other disorders including autism, cerebral palsy, and Prader-Willi syndrome. Angelman syndrome is a genetic disorder that cannot be cured, but treatment can help manage the symptoms.