- What is the genetic cause of Rett syndrome?
- Is Rett syndrome more common in males or females?
- Are you born with Rett syndrome?
- How old is the oldest person with Rett syndrome?
- Can Rett syndrome be treated?
- Why is Rett syndrome seen almost exclusively in females?
- At what age is Rett syndrome usually diagnosed?
- What is the life expectancy of a girl with Rett syndrome?
- Does Rett syndrome affect lifespan?
What is the genetic cause of Rett syndrome?
In 1999, NICHD-supported scientists discovered that most classic Rett syndrome cases are 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..
Is Rett syndrome more common in males or females?
Rett syndrome is a genetic neurodevelopmental disorder that almost exclusively affects females and is very rare in males. Rett syndrome is caused by mutations in the MECP2 gene located on the X chromosome.
Are you born with Rett syndrome?
Babies with Rett syndrome typically are born after a normal pregnancy and delivery. Most infants with Rett syndrome seem to grow and behave normally for the first six months. After that, signs and symptoms start to appear.
How old is the oldest person with Rett syndrome?
Coenraads said girls with Rett syndrome typically live to adulthood and middle age, and the oldest person she knew of who had Rett died at 77.
Can Rett syndrome be treated?
Although there is no cure for Rett syndrome, treatments are directed toward symptoms and providing support, which may improve the potential for movement, communication and social participation. The need for treatment and support doesn’t end as children become older — it’s usually necessary throughout life.
Why is Rett syndrome seen almost exclusively in females?
The symptoms, progression, and severity of Rett syndrome can vary dramatically from one person to another. The disorder primarily affects females and most likely represents a spectrum of disease associated with mutations of the MECP2 gene.
At what age is Rett syndrome usually diagnosed?
Rett syndrome is usually recognized in children between 6 to 18 months as they begin to miss developmental milestones or lose abilities they had gained.
What is the life expectancy of a girl with Rett syndrome?
Life expectancies are not well studied, although survival at least until the mid-20s is likely. The average life expectancy for girls may be mid-40s. Death is often related to seizure, aspiration pneumonia, malnutrition, and accidents.
Does Rett syndrome affect lifespan?
While it is known that Rett syndrome shortens lifespan, not much is known about specific life expectancy rates for people with Rett syndrome. It generally depends on the age when symptoms first begin and their severity. On average, most individuals with the condition survive into their 40s or 50s.