What is Rett Syndrome?

Rett Syndrome  (RTT) is a neurological disorder seen almost exclusively in females. It is usually caused by a mutation of the MECP2 gene on the X chromosome. Early developmental milestones appear normal, but between 6-18 months of age, there is a regression in skills, particularly affecting speech, hand use and coordination. A hallmark of  RTT  is repetitive hand movements that may become almost constant while awake. Other features include seizures, irregular breathing, and curvature of the spine.

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