Rett syndrome is a rare genetic disorder that affects the development of the brain. It primarily affects girls and is caused by mutations in the MECP2 gene on the X chromosome. The disorder was first described in 1966 by Austrian physician Andreas Rett.
The symptoms of Rett syndrome typically become apparent between 6 and 18 months of age. Infants with Rett syndrome typically develop normally until this time, but then begin to regress in their development. They may lose the ability to speak, walk, or use their hands in purposeful ways. Other symptoms of Rett syndrome can include seizures, breathing difficulties, digestive problems, scoliosis, and sleep disorders.
Rett syndrome is a complex disorder that affects many different aspects of brain function. The MECP2 gene provides instructions for making a protein that is important for the development and maintenance of brain cells. Mutations in this gene disrupt the normal function of this protein, leading to problems with communication between brain cells and affecting the development of the brain.
There is no cure for Rett syndrome, but there are treatments available to manage symptoms and improve quality of life. These can include medications to control seizures or improve breathing, therapies to improve mobility and communication, and supportive care for any other medical problems that may arise.
Research into Rett syndrome is ongoing, and scientists are working to better understand the underlying causes of the disorder and to develop new treatments. In recent years, there has been a focus on developing therapies that target the underlying genetic causes of Rett syndrome. These therapies aim to restore the normal function of the MECP2 gene and improve brain function in individuals with the disorder.
Overall, Rett syndrome is a rare but serious disorder that can have a significant impact on the lives of those affected by it. While there is no cure, there are treatments available that can help manage symptoms and improve quality of life. Ongoing research into the disorder is providing hope for the development of new therapies that may one day provide a cure.