October Rett Syndrome Awareness

Spread the word! Spread the awareness!

What is it?

Rett Syndrome is a neurodevelopment disorder that normally affects girls.

What other names are there for this disorder (Any common names?)

There aren't any common names, people abbreviate to RTT or RST.

What causes the disorder? (mutation, nondisjunction)?

The Rett Syndrome is caused by a mutation in the methyl CpG binding protein 2, or MECP2. This MECP2 is essential for brain development and acts as one of the many biochemical switches of gene (turns off and on genes).

What gene or chromosome is affected by this disorder (X,Y, #21) ?

MECP2 gene is found on a person’s X chromosome, one of the two sex chromosomes. Girls have two X chromosomes, that's why it's mostly happens in girls.

What are the symptoms?

In this disorder the symptoms vary; include walking on the toes, sleep problems, a wide-based gait ( way your feet stand), teeth grinding, difficulty chewing,breathing difficulties, air swallowing, loss of use of the hands, distinctive hand movements, slowed brain, head growth, seizures, and intellectual disability.

What population is affected?

One in every 15,000 live female births have Rett Syndrome.

Can anyone be a candidate for the disorder?

Mostly woman get this disorder, but Rett syndrome can also happen in boys.

How is it inherited? (Is it sex-linked, recessive, and/or dominant?)

This disorder is normally spontaneous, less than 1% of the cases recorded were inherited.

What kind of medical assistance will the affected child need?Will Further assistance be needed, as the child grows older?

The child will need medicine and occupational,physical,speech therapies, and in some casses especial equipments .When the child grow up this process will continue the same, medication will vary. In teenage years the symptoms sometimes lessen.

What is the long-term outlook for the child?

Currently it is not possible to make reliable estimates about life expectancy beyond age 40, since the disorder is really rare.

Are there any treatments or cures?

There is no cure for Rett syndrome,Treatment for the disorder management of symptoms.

Could this disorder have been prevented?

There is no way to prevent Rett Syndrome, it’s 99% of time spontaneous.

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

Yes these individuals can have children. Those individuals later won't be affected since the Rett syndrome is spontaneous.

What is the current status of research on this disorder? Is there a cure coming soon?

Right now many organizations are researching about this disorder and developing new therapies to manage symptoms. Unfortunately there is no prediction to when there will be a cure.