Personal stories from real people who survived their disease … And how they did it!

personal stories from people who successfully battled their disease and how they did it

More about Rett Syndrome

Rett syndrome (RTT) is a rare genetic condition that results in certain mental and physical disabilities. It tends to only affect females. RTT develops due to a mutation in one of the genes on the X chromosome. The gene in question is the methyl CpG binding protein 2 (MECP2) gene. RTT is very rare and occurs in around 1 in every 10,000–15,000 live female births. There are four stages of RTT, and the first stage typically begins between the ages of 6 and 18 months. Keep reading to learn more about RTT, including the symptoms, treatments, and outlook for this rare condition.

What is it?

RTT is a neurological condition. An infant with RTT will usually have normal early growth at the beginning of life, followed by a number of symptoms that develop in stages. The condition primarily affects females. This is because the MECP2 gene is on the X chromosome. Females have two X chromosomes, while males only have one X chromosome. In females, one of each two X chromosomes is inactive in each cell. Which one is active is random, which is why the severity of RTT varies so much from person to person. In males, there is only one X chromosome, so RTT is typically lethal to the male fetus. If the fetus does survive to birth, the infant will likely have a severe case of RTT and likely die early in life.

Causes

RTT is almost always due to a mutation in the MECP2 gene. This gene is located on the X chromosome. Scientists discovered this gene in 1999, and they believe its role is to control the functions of many other genes. Mutations in the CDKL5 and FOXG1 genes can also cause RTT, but there will be slightly different clinical patterns when this is the case. According to one studyTrusted Source, despite the scientific progress that researchers have made since the discovery of RTT, the exact way in which these mutations cause RTT is largely unknown.