What is Rett syndrome?
Rett syndrome is a very rare neurological and genetic disorder. One in every 10,000 to 15,000 female births is affected, as it affects almost exclusively girls. It is caused by a mutation in the MECP2 gene, located on the X chromosome.
Development in the first 6 to 18 months of life is usually normal, but with a sudden loss of skills, especially language and use of the hands, in addition to difficulty walking, maintaining balance, or coordinating movements. Repetitive movements such as purposeless rubbing or clapping are common. Other symptoms include seizures, scoliosis, and respiratory and heart problems.
Unfortunately, Rett syndrome has no cure, but there are treatments to relieve symptoms and improve quality of life, which can exceed 40 years with proper care. Physical, occupational, and speech therapy are recommended, as well as medication for seizures or muscle stiffness. However, emotional and educational support for the family is undoubtedly critical, as Rett syndrome is a complex challenge. With early diagnosis and ongoing care, many girls can improve their well-being and development.
