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What is Rett Syndrome?

Rett syndrome is a rare neurological disorder affecting mainly females and very few males.

Although present at birth, it is usually undetected until major regression occurs at around one year of age, when children will lose acquired skills - this can be accompanied by distress and anxiety.

Rett syndrome was first described in 1966 by the Austrian doctor, Andreas Rett. Genetic but not hereditary, it could occur in any family at any time. People with Rett syndrome have profound and multiple physical and learning disabilities and are totally reliant on others for support throughout their lives. As with any disability, the impact of the condition is not only upon the child but upon family and carers too. RSAUK seeks to support the person with Rett syndrome and the family together. They are all ‘living with Rett syndrome’. It is the most common genetic cause of severe disability in females. A large proportion of people with Rett syndrome have a mutation, or fault, on the MECP2 gene on the X chromosome.

There are substantial communication and mobility issues for people with Rett syndrome. Most will not speak and, by adulthood, only 50% will walk. Epilepsy, chronic spinal curvature and breathing and feeding difficulties are also common features. However, we are increasingly aware of people with Rett syndrome living into their 50s and beyond.






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