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Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.
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Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.
We aim to share our research findings with families so that they may better understand Rett syndrome and the future for their family.
These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites.
Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.
In 1999, it was discovered that Rett syndrome is commonly associated with a mutation in the MECP2 gene.
The clinical diagnosis has often been uncertain in early childhood as the symptoms may be confused with those occurring in other disorders such as autism, cerebral palsy and non-specific global developmental delay. However, since the discovery of the association with abnormalities in the MECP2 gene the clinical diagnosis is now often confirmed by genetic testing.