Rett syndrome is a rare genetic neurological disorder that primarily affects girls and usually becomes noticeable during early childhood. It is most commonly caused by mutations in the MECP2 gene, which plays an important role in brain development and function. Children with Rett syndrome often develop normally during the first months of life before gradually losing previously acquired skills. Common symptoms include loss of purposeful hand movements, difficulties with speech and communication, problems with coordination and walking, repetitive hand movements, and breathing abnormalities. Some individuals may also experience seizures, scoliosis, sleep difficulties, and gastrointestinal problems. The severity and combination of symptoms vary between individuals. Rett syndrome currently has no cure, but treatment focuses on managing symptoms and improving quality of life. Support may include physical, occupational, and speech therapy, nutritional support, medications, and regular medical monitoring. Research into treatments targeting the underlying genetic cause is ongoing.
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