Rettszindróma

Rettszindróma, also known as Rett syndrome, is a rare genetic neurological disorder that primarily affects girls. It is typically characterized by a period of normal development in the first six to eighteen months of life, followed by a rapid regression of acquired skills. This regression often includes the loss of speech, hand skills, and purposeful hand movements, replaced by repetitive hand movements such as wringing or washing.

Individuals with Rett syndrome usually experience slowed head growth, breathing irregularities (such as hyperventilation and breath-holding), and motor impairments including problems with gait and coordination. Seizures are also common. While there is no cure for Rett syndrome, therapies such as physical, occupational, and speech therapy can help manage symptoms and improve quality of life. Support and care are focused on addressing the diverse needs of affected individuals, including their physical, social, and emotional well-being. The disorder is caused by mutations in the MECP2 gene, which plays a crucial role in brain development.