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Angelman syndrome is a genetic disorder. It causes developmental disabilities, neurological problems and sometimes, seizures.

People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities.

Developmental delays, between about 6 and 12 months of age, are usually the first signs of Angelman syndrome. Seizures often begin between the ages of 2 and 3 years old.

People with Angelman syndrome tend to live a normal life span, but the disease cannot be cured. Treatment focuses on managing medical and developmental issues.

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https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes
https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/diagnosis-treatment/drc-20355627

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COMMON TREATMENTS AND CONTROL OF DISEASE

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COMMON TREATMENTS AND CONTROL OF DISEASE

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There's no cure for Angelman syndrome. Research is focusing on targeting specific genes for treatment. Current treatment focuses on managing the medical and developmental issues.

Anti-seizure medication to control seizures

Physical therapy to help with walking and movement problems

Communication therapy, which may include sign language and picture communication

Behavior therapy to help overcome hyperactivity and a short attention span and to aid in development

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Angelman syndrome signs and symptoms include:

Developmental delays, including no crawling or babbling at 6 to 12 months
Intellectual disability
No speech or minimal speech
Difficulty walking, moving or balancing well (ataxia)
Frequent smiling and laughter
Happy, excitable personality

People who have Angelman syndrome may also have other signs and symptoms, including:

Seizures, usually beginning between 2 and 3 years of age

Stiff or jerky movements

Small head size, with flatness in the back of the head (microbrachycephaly)

Tongue thrusting

Hair, skin and eyes that are light in color (hypopigmentation)

Unusual behaviors, such as hand flapping and arms uplifted while walking

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Colin Farrell Talks about Angelman Syndrome on Ellen

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Angelman syndrome is a genetic disorder. It's usually caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene.

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Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.

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Angelman syndrome affects males and females in equal numbers. The prevalence of Angelman syndrome is estimated to be approximately 1 in 12,000-20,000 people in the general population.