Rett syndrome is a neurological and developmental genetic disorder that occurs mostly in females. Infants with Rett syndrome seem to grow and develop normally at first, but then they stop developing and even lose skills in different stages of the disease over a lifetime.
Rett syndrome is a neurological and developmental genetic disorder that occurs mostly in females. Infants with Rett syndrome seem to grow and develop normally at first, but then they stop developing and even lose skills in different stages of the disease over a lifetime. The NICHD has supported research on Rett syndrome for the past 25 years and continues to do so in the hope of learning how ...
There are two main types of Rett syndrome: classic and atypical. The two types may differ by their symptoms or by the specific gene mutation.
Most people with Rett syndrome benefit from well-designed interventions no matter what their age, but the earlier that treatment begins, the better. With therapy and assistance, people with Rett syndrome can participate in school and community activities. 1 These treatments, forms of assistance, and options for medication generally aim to slow the loss of abilities, improve or preserve ...
Rett Syndrome About What are the symptoms of Rett syndrome? The first symptom of Rett syndrome is usually the loss of muscle tone, called hypotonia. 1 With hypotonia, an infant's arms and legs will appear "floppy." Although hypotonia and other symptoms of Rett syndrome often present themselves in stages, some typical symptoms can occur at any ...
Most cases of Rett syndrome are caused by a change (also called a mutation) in a single gene. 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. 1, 2 ...