Rett Syndrome Disorder

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by Moofs514
Last updated 5 years ago


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Rett Syndrome Disorder

Rett Syndrome is a genetic disease that affects mostly girls and very few boys. It starts with normal growth and early development, but is followed by slowing in development of the child. It is characterized by the loss of purposeful hand use, distinctive movements of the hands, slowed growth of the head and brain, problems with walking, seizures and intelectual disability.

1.) Blood Tests2.) Urine Tests3.) Nerves Conduction Studies4.) Imaging Tests5.) Hearing Tests6.) Eye and Vision Exams7.) Brain Activity tests

What tests can be conducted to diagnose this disease?

Rett Syndrome Disorder

Studies have conected Multiple Rett Syndrome cases to a defect in a gene called methl-CpG-binding protein 2 (MeCP2). The MeCP2 gene is on the X chromosome. Because females have two X chromosomes, the gene mainly affects girls.


Rett Syndrome affects your nervous system and is seen mainly in girls, affecting any body movement. Rett syndrome may cause loss of speech and purposful hand movement.

1.) Help with feeding and diapering2.) Methods to treat constipation and GERD3.) Physical therapy to help prevent hand problems4.) Weight bearing exercises for those with scoliosis5.) Supplemental feedings can help those with slowed growth6.) Medications such as carbamazepine may be used to treat seizures.


This is the difference between a regular person's karyotype (above) and a person with Rett Syndrome's karyotype (below)

This picture (right) shows how people with Rett Syndrome can live a fairly normal life

Find ways to relieve stress. Talk things out with a friend or family member. Give yourself alone time with something you ejoy doing if necessary.Connect with others, get help from others families going through this same challenge.

Ways to cope with the disease for families


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