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What is Rett Syndrome?

Rett syndrome (RTT) is a rare genetic neurological disorder that occurs almost exclusively in females; even rarer in males.

It is estimated that 1 in 10,000 are affected by RTT, usually caused by a mutation of the MECP2 gene on the X chromosome.

It leads to severe impairments, affecting nearly every aspect of the individual’s life: their ability to speak, walk, eat, and even breathe easily.

Other medical issues encountered included seizures, muscle stiffness, osteoporosis and scoliosis.

The hallmark of RTT is near constant repetitive hand movements.

RTT is usually recognized in children between 6-18 months as they begin to miss developmental milestones or loss abilities they had gained also known as regression.

RTT is not a degenerative disease. Many individuals with RTT live long into adulthood.

There is currently no cure however, medical advancements are being made on medication to help with symptom control.

Rett Syndrome In Males