Angelman syndrome is a genetic and neurological disease characterized by seizures, disconnected movements, intellectual retardation, mudez and excessive laughter.Children with this syndrome have large mouth, tongue and jaw, small forehead and are usually blond and have blue eyes.
The causes of Angelman syndrome are genetic and are related to the absence or mutation on chromosome 15 inherited from the mother.This syndrome is incurable, but there are treatments that help reduce symptoms and improve the quality of life of people with the disease.
- Symptoms of Angelman syndrome can be seen in the first year of life due to delayed motor and intellectual development.
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- The main symptoms of this disease are:.
In addition, children with Angelman syndrome have typical facial features, such as a large mouth, a small forehead, highly spaced teeth, a prominent chin, a thin upper lip, and a lighter eye.
Children with this syndrome also tend to laugh spontaneously and constantly and at the same time shake hands, which also happens during periods of arousal, for example.
Diagnosis of Angelman syndrome is made by the pediatrician or family doctor looking at the signs and symptoms of the person, such as severe mental retardation, uncoordinated movements, seizures, and a happy face, for example.
In addition, your doctor recommends certain tests to confirm the diagnosis, such as an electroencephalogram and genetic testing, that are done to identify the mutation.Find out how angelman syndrome genetic testing is going.
Treatment of Angelman syndrome consists of a combination of therapies and medications.Treatment methods include:
Angelman syndrome is a genetic disease that has no cure, but its symptoms can be alleviated with previous therapies and with the use of remedies, such as Ritalin, which works by reducing agitation in patients with this syndrome.