Rett syndrome is a neurological disease named after Austrian neurologist Andreas Rett in 1966. This disease only affects girls and is one of the most common causes of mental retardation in females. Girls with Rett syndrome develop normally during the first six to 18 months. This is followed first by a period of stagnation and then by rapid regression in motor and language skills. Girls with this syndrome stop using their hands and replace it with steriotyped hand wringing. Screaming and inconsolable crying are also common along with loss of speech, autistic behavior, panic attacks, grinding teeth, rigid gait, tremors, intermittent hyperventilation, and a small head.
About 50% of girls with Rett syndrome also suffer from seizures. They typically live until adulthood but are at risk of sudden death due to a heart conduction problem. Rett syndrome is an X-linked dominant trait and is die to nutation in the MECP2 gene on the X chromosome. This mutation can just develop or it is inherited from a parent who has somatic or germline mosaicism with the MECP2 mutation in only some of his or her cells. This MECP2 mutation has alos been found in patients previously diagnosed with autism, mild learning disability, and mental retardation with spasticity or tremor. Males with this mutation suffer severe brain disease and die before their first birthday.