Rett Syndrome Medical Pamphlet

This is for anyone who needs information on Rett Syndrome.

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Rett Syndrome Information

  1. What other names are there for this disorder? (any common names)

autism-dementia-ataxia-loss of purposeful hand use syndrome.

What causes the disorder?

It is caused by a mutation in the methyl CpG binding protein 2, or MECP2 gene.

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Which gene or chromosome is affected by the disorder? (x, y, chromosome 21)

The X-chromosome is effected by Rett's syndrome.

Are there prenatal tests for this disorder? If yes, what are they?

No there isn’t prenatal tests for this disorder yet.

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What are the symptoms?

loss use of hands and communication.

What population is affected? Can anyone be a candidate for the disorder?

Women are the number 1 carrier for Rett syndrome

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How is it inherited? (sex-linked, dominant, recessive)

Mutations in the MECP2 gene.

What kind of medical assistance will the affected child need? Will further assistance be needed as the child grows older? What is the long-term outlook for the affected child? Medicines can be used to treat seizures, but there is no medicine for Rett syndrome itself. Yes, you will need treatment for the rest of your life, you can’t grow out of it.

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Are there any treatments or cures?

Not for Rett syndrome itself but you can get medicine for the seizures and other things that Rett syndrome brings.

Could this disorder have been prevented? If so, how?

No there isn’t a way to prevent because we don't know how it occurs so we cant prevent it from happening.

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Can this individual have children in the future? Will those children be affected?

Yes, but the child will have a lot of dysfunctions.

What is the current status of research of this disorder? Is there a cure coming soon? They are working on a cure but it won’t be finished until about 2023 at the latest.

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Websites Used-

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