• What is
    Rett syndrome?

    Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls.

    It affects every aspect of life; speaking, walking, eating and even breathing.

    Rett syndrome is caused by a spontaneous and random genetic mutation which, in except the very rarest of circumstances, is not passed on from parent to child.

Who does it affect?

Rett syndrome affects approximately
1 in 10,000 females
(it is rarely seen in males).

  • What causes
    Rett syndrome?

    In almost all cases, Rett syndrome is caused by a mutation, or change in the DNA, of the gene named MECP2, found on the X chromosome.

    This gene contains the instructions for the body to make a protein that is vital for brain development. The gene mutation prevents nerve cells in the brain from functioning properly.

  • Almost everyone with Rett syndrome will have no history of the disorder in their family.

  • Stage one symptoms of Rett syndrome appear after an early period of seemingly typical development.

    At around 6-18 months, a stagnation of skills is apparent, followed by a period of regression.

    These initial signs can be missed due to the subtle slowing of development at first.

  • Stage two symptoms usually begin between ages 1-4. Communication skills are lost or significantly reduced, along with purposeful hand use.

    Other symptoms include slowing of the rate of head growth, disorganised breathing, characteristic hand movements (such as wringing, washing or tapping), irritability and difficulties in walking.

    Some girls may display autistic-like symptoms, such as loss of social interaction or self-injurious behaviours.

  • Stage three symptoms can begin at any age between 2 and 10, and can last for years.

    Some things can become more difficult, such as worsening motor problems and seizures. While other symptoms can marginally improve, including irritability and basic levels of communication (such as maintaining eye contact).

    Girls in this stage often have increased attention span and alertness, and show more interest in the world around them.

  • Stage four symptoms can last for decades, and include reduced mobility, curvature of the spine and muscle weakness.

    However, cognition, communication skills and hand skills tend not to decline, whilst eye gaze improves.

    As a movement disorder Rett syndrome is particularly cruel. In the simplest of terms, Rett syndrome stops you from doing what you want to do, when you want to do it. Your body does not obey the commands of your brain.

  • How is
    Rett syndrome
    diagnosed?

    If your child’s symptoms suggest Rett syndrome, a blood test can be carried out to detect the genetic mutation associated with Rett. As this change in the MECP2 gene is not found in every child with the condition, confirming the diagnosis can be difficult. Sometimes, failing to find the mutation does not rule out the condition.

    A paediatric neurologist or specialist should be consulted to confirm a clinical diagnosis of Rett syndrome, using a specific set of guidelines.

  • How does
    curerett.org help?

    Here at curerett.org we fund and accelerate the research that is essential to finding a cure for Rett syndrome, along with developing treatments that will make the lives of people living with Rett richer, and more free from pain and discomfort.

    Although there is currently no cure for Rett syndrome, scientists are working on reversing the syndrome in the Laboratory. Unlocking Rett syndrome could hold the key to unlocking a cure for other neurological conditions, such as Alzheimer’s, Autism, Bipolar Disorder, Parkinsons and Schizophrenia.

  • Key Facts

    • Rett syndrome has a ‘spectrum’. Symptoms are determined by the location, type and severity of the mutation. As such, two girls with the same mutation may develop quite differently.

    • Girls and women with Rett syndrome are now known to have much higher levels of mental capacity than previously thought.

      Studies have shown that girls and women living with Rett syndrome are far more capable than they were given credit for in the past.

    • Rett syndrome is a leading genetic cause of severe disability in females.

      It is as prevalent as Cystic Fibrosis, yet is still relatively unknown outside the scientific community.

    • By restoring the full MECP2 protein in the laboratory mouse, researchers have proven that it is possible to recover brain function, leading to a cure.

      Rett syndrome has been described as a neurodevelopmental, not neurodegenerative condition, meaning there appears to be no underlying damage to the brain as a result.

      It may be possible to completely reverse
      Rett syndrome.

  • New Diagnosis?

    We have girls with Rett, so we’ve been there too. We know what it’s like, and we’re here to help. Call 0300 123 1774.