What is Rett syndrome?
Rett syndrome (RTT) is a neurodevelopmental disorder most frequently caused by a genetic mutation of the MECP2 gene on the X chromosome. It almost exclusively afflicts girls, and occurs in about 1:10 000 of the population – roughly the same as the ratio of four-leaf clovers to three-leaf clovers found in nature.
RTT was first described by Austrian physician Andreas Rett in the 1960s, and its cause (the genetic mutation responsible) was discovered several decades later in Great Britain. Much genetic and other research has been conducted since then around the world, and the disease’s diagnostic criteria have been revised. In the Czech Republic, RTT is little known among both experts and the general public, which has had a negative impact on girls with the illness and their parents – many patients are still misdiagnosed with other illnesses, such as cerebral palsy or autism.
RTT (classic RTT and atypical RTT, as well as Angelman syndrome, which has similar symptoms) is extremely underdiagnosed in the Czech Republic. Based on the statistics, we assume that around 240 to 540 women and girls have RTT, but there are only 60 registered cases. It is estimated that 6 to 10 girls are born with RTT in our country every year.
