Please note, this is an overview provided by Nora’s parents. We are not scientists! Please visit the sites below to get the most accurate and latest information about Rett Syndrome.
Rett Syndrome was first described in 1966 by an Austrian pediatrician named Andreas Rett. Rett Syndrome is a neurodevelopmental disorder of the brain that primarily affects females. The symptoms include stereotyped hand movements (wringing, clapping, etc), gross and fine motor problems, seizures, scoliosis, gastrointestinal disorders and the inability to speak. The symptoms and behaviors of people with Rett Syndrome are often confused with the symptoms of autism and cerebral palsy. People with Rett Syndrome often exhibit typical development for a period of time, followed by rapid regression and loss of skills.
In 1999, Neurological Pediatrician Huda Zoghbi demonstrated that Rett Syndrome was caused by a mutation on the MECP2 protein strand of the X chromosome. Because the cause is well-known relative to many disorders, there is excellent potential to develop treatments and potentially even a cure! This would not only benefit Rett Syndrome but may help make progress on the treatment of disorders that exhibit similar symptoms.
The majority of people living with Rett Syndrome are female. It is likely that the disorder affects genders equally but males rarely survive to birth and usually die within the first two years of life. This is because the disorder-causing gene is located on the X chromosome. Females have two X chromosomes and are able to produce healthy proteins along with the ones produced by the damaged gene. Surviving males often also have Klinefelter syndrome, a disorder that results in an extra X chromosome.
Since the disorder is relatively new, there may be many older females with misdiagnosed or undiagnosed Rett Syndrome. Females with Rett Syndrome may have a lifespan of 40 years or more. Death at younger ages is often caused by spontaneous brainstem disfunction, seizures and cardiac arrest due to long QT syndrome.
For more information about Rett Syndrome visit: