What is Rett Syndrome

Rett Syndrome is a rare genetic disorder that primarily affects girls. It is characterized by a loss of purposeful hand skills, slowed growth, and a regression of acquired skills such as speech and motor abilities. The condition typically becomes apparent between 6 and 18 months of age, as affected children start to lose their ability to communicate and interact with others.

One of the hallmark features of Rett Syndrome is repetitive hand movements, such as hand-wringing or hand-to-mouth movements. Individuals with Rett Syndrome may also experience breathing abnormalities, seizures, and intellectual disabilities. While the severity of symptoms can vary, most individuals with Rett Syndrome require lifelong support and care.

Rett Syndrome is caused by mutations in the MECP2 gene, which is responsible for producing a protein critical for brain development. These mutations occur randomly and are not typically inherited from parents.

Although there is currently no cure for Rett Syndrome, various therapies and interventions can help manage symptoms and improve quality of life. Early diagnosis and intervention are crucial in providing the best possible outcomes for individuals with Rett Syndrome.