Rett syndrome is a rare genetic neurological disorder that affects brain development, leading to severe difficulties with movement, communication, learning, and coordination. It occurs almost exclusively in girls, although it can rarely affect boys. Most babies with Rett syndrome appear to develop normally during the first 6 to 18 months of life before they gradually lose previously acquired skills, such as speaking, purposeful hand movements, and walking.
The condition is most commonly caused by a mutation (change) in the MECP2 gene, which is essential for normal brain function and development. In most cases, the mutation occurs spontaneously and is not inherited from the parents, and there are no known lifestyle or environmental risk factors for Rett syndrome.
Some common symptoms may include repetitive hand movements (such as hand-wringing or clapping), loss of speech, difficulty walking, poor balance and coordination, feeding or growth problems, etc. The severity and progression of symptoms can vary from person to person.
While there is no cure, early diagnosis and supportive treatment can improve quality of life. Treatment often involves a combination of medications, physical, occupational, and speech therapy, nutritional support, and regular monitoring to manage complications and support overall development.
