What is Rett syndrome?

 

Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls 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. 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 of these mutations are 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.

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

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