Disease name: Angelman Syndrome

ICD-10 Disease Code: Q93.51 - Angelman syndrome

ICD-10 Disease Group: Q93.5 - Other deletions of part of a chromosome

Angelman syndrome is a genetic disease that primarily affects the nervous system, manifesting itself as hyperactivity, and resulting in easily excitable children. The symptoms are caused by the impaired development of the nervous system affecting intellecutal development and behaviour, and also include characteristic physical manifestations.

The disease is most often caused by a loss-of-function mutation in a single gene called UBE3A. Both inherited copies of UBE3A are usually active in most parts of the body, however, in some areas of the brain, only the maternally inherited gene is active. If the mother passes a diseased gene on to her child, some areas of the brain will be void of UBE3A.

70% of cases of Angelman syndrome are caused by a deletion of chromosome 15 in which UBE3A resides. However, in about 15% of cases the direct cause of the disease is still unknown.

Angelman syndrome affects 1 in 12,000 to 20,000 people

The disease affects men and women equally.

Source: https://medlineplus.gov/genetics/condition/angelman-syndrome/#frequency

The first signs of Angelman syndrom usually appear from around 6-12 months of age, where children exhibit delayed development, causing them to learn to sit and crawl late. Children suffering from Angelman syndrome often start making unintelligeble speech in the same period, and many never develop actual speech, and can instead only say a few words or none at all.

Movement is also affected in Angelman syndrome, and people suffering from the disease are often very easily excitable and happy, causing uncontrollable jerking movements and flapping of the hands. They often appear paler than their relatives and can develop other signs such as cross-eyedness, trouble sleeping and seizures.

Angelman syndrome is diagnosed through a blood test, and thorough genetic testing is then performed on the blood sample in order to assess the state of the UBE3A gene.

There is currently no cure for the disease. Treatments are most often focused on managing and reducing symptoms, with a focus on minimising seizures and maximising physical control and speech development. Patients suffering from Angelman syndrome usually reach normal life expectancy.

• https://www.nhs.uk/conditions/angelman-syndrome/
• https://medlineplus.gov/genetics/condition/angelman-syndrome/
• https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes/syc-20355621
• https://rarediseases.info.nih.gov/diseases/5810/angelman-syndrome

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Angelman Syndrome