Rett Syndrome

Rett Syndrome is a neurological disorder that affects about 1 in every 10-15,000 girls. Most girls appear to develop normally for the first 6 to 18 months of their lives. Subtle problems may start to emerge but these can be easily overlooked. There then follows a period of regression, lasting weeks or months. Speech is lost. There is a loss of purposeful hand movements. These are replaced by the repetitive hand movements (clasping, wringing, mouthing) that characterise the disorder. Most girls start to experience problems with their breathing; breath-holding and hyperventilation are common. Those girls who have learned to walk before the onset of the regression usually become unsteady and many stop walking altogether. Seizures are common, many girls have difficulty eating, and most will develop a curvature of the spine.

Rett Syndrome is caused by a mutation to the MECP2 gene in 95% of cases. Although it is a genetic disorder, it is not usually inherited. At present there is no cure for Rett Syndrome. However, in 2007, Prof Adrian Bird and colleagues, at the University of Edinburgh, demonstrated that the symptoms of Rett could be reversed in a mouse model. There is real hope that this research may lead to a cure for our girls.

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