What is Rett syndrome?
Rett syndrome—a disease that features the symptoms of autism, cerebral palsy, Parkinson’s disease, epilepsy and anxiety disorders—is a lifelong neurological disorder. It’s diagnosed almost exclusively in girls, leaving them unable to speak, walk, or use their hands. Most will experience breathing problems, feeding tubes, seizures, anxiety, and gastrointestinal and orthopedic issues across their lifetimes. And at present, there is no cure.
How common is it?
The Rett Syndrome Research Trust (RSRT) reports 15,000 girls and women living in the U.S. with Rett Syndrome. Globally, that number balloons to 350,000, making Rett syndrome the second most common cause of severe intellectual disability in girls after Down syndrome. …show more content…
The International Rett Syndrome Foundation (IRSF) offers an analogy: Picture the MECP2 gene as a book with four chapters. Mutated MECP2 genes may having missing pages, extra pages or pages in the wrong order. In some cases, an entire chapter (or more) may be missing.
This misplaced material causes a shortage of a protein that controls the development of sensory, emotional, motor and autonomic functions in the brain. In people with Rett Syndrome, this shortage disrupts normal functioning (though how this leads to Rett syndrome is still unclear).
How do these mutations happen?
According to the U.S. National Library of Medicine, a gene mutation is a permanent alteration in a gene’s DNA sequence. Mutations can happen during cell division or when DNA gets damaged by environmental factors. Gene mutations are common and many times they have no effect. Still, other mutations can be beneficial, creating genetic diversity that keeps populations healthy. But the mutations that take place on the MECP2 gene are anything but beneficial.
Is Rett syndrome hereditary?
Research collected by the National Institutes of Health reveals that, in 99 percent of people with Rett syndrome, there is no family history of the disorder. In most cases, the mutated copy of MECP2 can be traced to a random mutation in