RTS, Rett Syndrome

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by TiaSanti
Last updated 5 years ago

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RTS, Rett Syndrome

What is it?It is a very rare brain disorder that develops in girls mostly. Before symptoms show the child seems to be developing normally with subtle abnormalties. In total there are 4 stages of Rett Syndrome. How do you get it?Nearly all cases of Rett syndrome are caused by a mutation in the methyl CpG binding protein 2. (The MECP2 gene). Mutations in other genes like the CDKL5 and the FOXG1 genes depending on if the it is Atypical Rett Syndrome or Congenital Rett Syndrome. Most cases are spontaneous and not likely to be passed down in generations. Identification?The mutation happens on the X chromosome so but to see exactly what gene it is effecting is sometimes hard to tell. Boys that develop Rett Syndrome die shortly after birth becuase they only have 1 X chromosome instead of the 2 that girls have.

RTS, Rett Syndrome

SymptomsSlowing of head growth, loss of muscle tone, loss of purposeful use of hands, speech and social skills start to deteriorate, problems with muscle movement and coordination. *Simple tasks become very hard to do*

Medical Issues:Scoliosis, Seizures,Gastroesophageal reflux (GERD),

Gene: X-linked MECP2

There are no known cures but there are some treatments available such as:Help with feeding,Treatment for GERD,Physical Therapy,Participating in activities(improves social interactions)

Chances of getting: 1 in 8,500 females.


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