What is it?
Rett Syndrome, or RTT, is a rare genetic disorder most commonly found in females. It affects about 1:10,000 females and ethnic background does not matter. It is caused by a sporadic mutation on the X chromosome. This mutation affects the gene MECP2 which produces the protein MeCP2. The mutation prevents the protein from being produced, affecting other genes. It will turn off the regulating activity for other genes or cause them to function abnormally. This can cause failure of brain functions. This causes problems to the cognitive, sensory, emotional, autonomic, and motor functions. Normally these symptoms occur after 6 months of birth. Before that, they will seem to develop normally.