Rett Syndrome

Rett syndrome is a genetic neurodevelopmental disorder that almost always affect girls. It usually presents at six to 18 months of age with the regression of speech and physical abilities.RSRF: Introduction to Rett Syndrome

Symptoms present at six to 18 months with regression of speech and motor development, repetitive motions of the hand, irregular breathing, severe problems with motor control and seizures.RSRF: Introduction to Rett Syndrome

Rett syndrome is caused by a mutation to the gene MECP2 on just one of the two x chromosome. One x chromosome is naturally inactivated. Thus Rett syndrome sufferers have a normal gene but it is inactive.IRSF: Research Breakthrough Video RSRF: Introduction to Rett Syndrome

The disease is rarely genetically inherited, less than 1% of the time, and has no tendencies based on race. There have been more than a hundred mutations identified on the MECP2 gene.RSRF: Introduction to Rett Syndrome

On February 8, 2007, researcher Adrian Bird made a breakthrough discovery with Rett syndrome reversibility in mice. His research revealed a complete recovery in Rett syndrome model mice when their MECP2 gene was reactivated. The discovery shows that if genetic treatment was available for Rett syndrome sufferers, a full recovery from symptoms might be possible. Because the gene was simply blocked to induce Rett syndrome symptoms in the mice, reactivating it was a far simpler task than repairing the mutated gene in humans. It will probably be some time before a treatment is available for humans.IRSF: Research Breakthrough

The content in this page is not a substitute for professional medical advice. If you think your child has Rett syndrome, please consult your doctor.

• ClinicalTrials.gov: Rett Syndrome Clinical Trials

• WE MOVE: Discussion Forum: Rett Syndrome