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Unlocking the Mysteries of Rett Syndrome

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Causes

Rett syndrome is primarily caused by mutations in the MECP2 gene. These mutations can occur randomly and are not usually inherited from parents. The MECP2 gene provides instructions for making a protein that is essential for the normal function of nerve cells. When this gene is mutated, it can disrupt the normal development and function of the nervous system, leading to the characteristic symptoms of Rett syndrome.

Individuals with Rett syndrome may also experience seizures, breathing difficulties, and intellectual disabilities. Early intervention and supportive care can help manage symptoms and improve quality of life for those with Rett syndrome.

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