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Charity Registration No. 1016688
About Sturge Weber UK
Sturge Weber UK is a voluntary support group for families and people diagnosed with Sturge Weber syndrome, a rare neurological disorder. A registered charity, it was launched in 1990 as a independent group by the disability support organisation Contact a Family.
Aims:
To provide support and information on different aspects of the syndrome and to raise both public and professional awareness of the condition.
To promote medical research into the causes and treatment of this syndrome.
A Family Weekend is organised every twelve months when doctors and other professionals talk about relevant topics.
A Newsletter is produced and information leaflets are available.
Sturge Weber Syndrome
The underlying cause of Sturge Weber syndrome is a somatic mutation of the GNAQ gene, which leads to the overgrowth of blood vessels in the affected areas. This mutation is not inherited and occurs randomly during early fetal development.
It is usually characterised by the presence of a birthmark (port wine stain) on the face, usually involving the eye and forehead, also similar blood vessels on the brain, called an angioma. Those with Sturge Weber syndrome often suffer from epilepsy, hemiplegia (a weakness or stiffness affecting one side of the body, similar in appearance to that of a stroke), glaucoma and learning difficulties. vvSymptoms usually occur in the child's first year of life.
Learn more at https://www.sturgeweber.org.uk/
