Definition och Betydelse av "Rett syndrome"

What is "Rett syndrome"?

Rett syndrome is a rare genetic disorder that affects brain development, mainly in girls. It is typically characterized by a loss of movement abilities and speech, repetitive hand movements such as twisting or clapping, breathing problems, seizures, and intellectual disability. Rett syndrome is caused by changes in the MECP2 gene, which is important for brain development. The symptoms of Rett syndrome usually become apparent between 6 months and 2 years of age, after a period of normal development. There is currently no cure for Rett syndrome, but treatment focuses on managing symptoms and providing supportive care to improve the individual's quality of life. This may include physical therapy, speech therapy, occupational therapy, and medications to manage symptoms such as seizures or breathing problems.