Sturge-Weber syndrome

SWS

What is Sturge-Weber syndrome?

Sturge-Weber Syndrome (SWS) is a rare neurological condition affecting the skin and nervous system. Babies with Sturge-Weber syndrome are often born with a birthmark on their face known as a port-wine stain, caused by enlarged blood vessels under the skin.

What causes Sturge-Weber syndrome?

Sturge Weber syndrome is caused by a somatic mutation in the GNAQ gene. Somatic mutation is an alteration in the DNA after conception. This mutation occurs randomly (sporadically) for no known reason. It isn’t hereditary. People with SWS also have clusters of abnormal blood vessels between the layers of tissue that cover the brain and spine, known as leptomeningeal angiomas.

What are the symptoms of Sturge-Weber syndrome?

The symptoms of Sturge Weber syndrome include:

  • A port wine stain, most commonly on the face
  • Seizures, which can be difficult to control
  • Headache
  • Paralysis or muscle weakness on one side
  • Developmental and learning disabilities
  • Glaucoma (high fluid pressure in the eye)
  • Low thyroid (hypothyroidism)

Testing for SWS can be easy, as usually doctors diagnose based off visual characteristics, ie. port-wine birthmark or glaucoma, a detailed client history and specific testing.

Treatment can be varied for each patient, depending on the severity of each symptom. Laser treatment can be applied to remove or lighten the port-wine birthmark.

Seizures can be treated with anti-seizure medication, but may be difficult to control. Thanks to medical advances in scans and surgery, more children are now able to benefit from neurosurgery to help reduce, and in some cases, stop seizures. This can include hemispherectomy surgery to disconnect or remove the part of the brain causing the seizures.

Are you affected by Sturge-Weber syndrome?

If you’re affected by Sturge-Weber syndrome, The Brain Charity can support you.

We are the only charity in the UK to be here for every one of the more than 600 different neurological conditions in existence. Individually, many are rare, but combined, they affect 1 in 6 people.

We provide practical help on all aspects of living with Sturge-Weber syndrome, emotional support such as counselling, phone befriending and group therapy and social activities to people with Sturge-Weber syndrome from all over the UK from our centre in Liverpool.

Looking to talk to someone?

Phone us

Contact The Brain Charity now

Our friendly Information & Advice Officers are here to help. We endeavour to respond to all enquiries within 10 working days.

0800 008 6417

Looking to talk to someone?

  • Please tell us which neurological condition you are affected by and what you need support with.

Caring for someone affected by Sturge-Weber syndrome

We support carers, friends and family too

Are you a carer for or relative of someone with Sturge-Weber syndrome? It’s just as important for you to look after your own physical and mental wellbeing too.

The Brain Charity provides free support for carers, friends and family of people with any form of neurological condition, including Sturge-Weber syndrome, from anywhere in the UK.

We also run an additional carers advocacy service for all carers in Liverpool, regardless of which type of condition the person they care for has.

You don’t need to be a formal or registered carer

We can help you even if you don’t view yourself as a formal carer or claim Carer’s Allowance. Find out some of the ways we support carers below.

Other resources

The Brain Charity's library

The library at The Brain Charity has a range of resources on Sturge Weber syndrome and on a wide range of disability-related issues.

Visit our library to find out more, or search the online catalogue.

Support groups

Sturge Weber UK

Members of Sturge Weber UK have access to newsletters, events and Annual General Meetings.

Membership is free. Sign up here: www.sturgeweber.org.uk/membership/

Support groups at The Brain Charity

Are you interested in setting up a SWS support group, or do you already run one? Email info@thebraincharity.org.uk to let us know.

Alternatively, you can check out our list of related support groups here.

Other charities

Sturge Weber UK

Helpline: 01422 820408

Website: www.sturgeweber.org.uk

Contact

Helpline: 0808 808 3555

Website: www.contact.org.uk

Email: helpline@contact.org.uk