From the International Rett Syndrome Foundation (https://www.rettsyndrome.org) Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls, more rarely in boys, and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements. Rett syndrome is usually recognized in children between 6 to 18 months as they begin to miss developmental milestones or lose abilities they had gained.

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Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 900 different mutations found on the MECP2 gene, most found in eight different “hot spots.” Rett syndrome is not a degenerative disorder with individuals living to middle age or beyond. Rett syndrome occurs worldwide in 1 of every 10,000 female births and is even rarer in boys. Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of the mutation and X-inactivation.

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Symptoms may include:

 

 

• Loss of speech

• Loss of purposeful use of hands

• Involuntary hand movements such as handwashing

• Loss of mobility or gait disturbances

• Loss of muscle tone

• Seizures or Rett “episodes”

• Scoliosis

• Breathing issues

• Sleep disturbances

• Slowed rate of growth for head, feet and hands