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What is Rett Syndrome?


  • Rare genetic disease affecting girls almost exclusively

  • 99+% of occurrences are random mutations of the X-chromosome (not inherited)

  • Mutation occurs in the MECP2 gene - over 200 distinct mutations identified

  • Affects 1 in 10,000 girls worldwide (all racial/ethnic groups) – X chromosome MECP2 mutations are generally fatal for males at birth, or shortly thereafter

  • Often “misdiagnosed” as autism, cerebral palsy, or non-specific developmental delay

  • Characterized by:

    • Normal development in first 6-12 months of life – often no warning signs

    • Rapid regression phase at age 1-3

      • Loss of fine and gross motor skills including purposeful use of hands

      • Stereotypical, uncontrollable hand/arm movements - arm flapping and/or hand “wringing/washing”

      • Loss of speech/communication skills

      • Autistic-like gaze 

    • Second regression phase, typically between age 4 – early teens

      • Continued deterioration of fine/gross motor skills (purposeful hand movements)

      • Scoliosis (affects 80% of Rett girls) and osteoporosis 

      • Epileptic-like seizures

      • Breathing irregularities (apnea, sleep issues)

      • Cardiac arrhythmias

      • Persistent gastrointestinal issues

  • Symptoms typically plateau in late teen years - many girls are confined to wheel chairs and require assisted feeding, communication devices, and other supportive medical equipment

  • Most Rett girls are never able to live independently, but survive into adulthood 

Can you Cure Rett Syndrome? 

We hope!

  • Causal genetic mutations of the MECP2 gene have been specifically identified since 1999!

  • RS is neuro-developmental (not neuro-degenerative as once thought) – this is important!!

  • Laboratory research indicates that neurological and physical function can be restored (disease symptom reversal accomplished in mouse models)

  • Read more and watch the video describing the mouse reversal by clicking here .


Research is critical, on-going, and under-funded!

  • Genetic modeling - Rett mouse models have been genetically “created” and “cured” (symptoms reversed)

  • Silent (“Good”) X-chromosome activation

  • Gene-replacement research

  • Novel therapeutic approaches (Growth hormone, GABA process, Breathing Treatments)

  • Natural history studies (patient database collections)

  • Learning and symptom management research


Are There Treatments for Rett?  

  • Therapy is a constant requirement (lifelong) - Physical/Occupational/Speech

  • Nutrition management is critical

  • Neuro-rehabilitation and unique learning techniques

  • Seizure control

  • Anxiety management

  • Breathing therapies

  • Pharmaceutical intervention and assistive devices

  • Long-term care, financial planning, and estate strategies are a major consideration


Learn more here:

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