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- Austrian Andreas Rett first described it in 1966RSRF: Introduction to Rett Syndrome
- Became better recognized in the 1980s, after the syndrome was published in a well-known medical journalRSRF: Introduction to Rett Syndrome
- Occurs almost exclusively in girlsRSRF: Introduction to Rett Syndrome
- Affects 1 in 10,000 girlsRSRF: Introduction to Rett Syndrome
- Incidence may be much higher, as Rett syndrome can be misdiagnosedRSRF: Introduction to Rett Syndrome
- No cure availableRSRF: Introduction to Rett Syndrome
- Rarely affects malesRSRF: Introduction to Rett Syndrome
- Most live to adulthoodRSRF: Introduction to Rett Syndrome
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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
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 SyndromeGenetics
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 SyndromeThe 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
Scientific Progress
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-
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Rett Syndrome Questions
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%of mental retardation in downs syndrome 1 Answer"Most individuals with Down syndrome have mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range, with individuals having Mosaic Down syndrome t... read more -
Is aspergers syndrome real? 4 AnswersYes, I believe it's real, it's just people have different levels of it and it's not good to label someone as Asperger's Syndrome, yet sometimes simply call them... read more -
How would you feel if you were pregnant and found out you were carrying a baby with Down's Syndrome? 7 AnswersWhen I had a special needs child, I had no clue because there was no test to determine in advance, what he had. What would I have done has become severely cloud... read more
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Rett Syndrome Clinical Trials
- ClinicalTrials.gov: Rett Syndrome Clinical Trials
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New Video! "Typical Rett Syndrome..." has been published at Rett... http://rettsyndrome.magnify.net/video/Typical-Rett-Syndrome-Hand-Wrin
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New Video! "Life with Rett..." has been published at Rett Syndrome... http://rettsyndrome.magnify.net/video/Life-with-Rett-Syndrome-Melody
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