Thelansis

  Rett Syndrome (Also called: RTS, Cerebroatrophic Hyperammonemia) is a rare, non-inherited, X-linked dominant neurological disorder affecting brain development only in girls and is one of the most common causes of mental retardation in females. Girls with the syndrome show normal development during the first 6-18 months of life followed first by a period of stagnation and then by rapid regression in motor and language skills. The hallmark of Rett syndrome is the loss of purposeful hand use and its replacement with stereotyped hand-wringing. Screaming fits and inconsolable crying are common. With this syndrome, the girls typically survive into adulthood but are at risk of sudden unexplained death.   Etiology- Rett Syndrome is caused by a mutation within the Methylcytosine-binding protein 2 (MECP2) gene. The MECP2 gene is located on the X chromosome. Between 90% and 95% of girls with Rett syndrome have a mutation in the MECP2 gene. Among families with a child affected by ...