What is Rett?

Rett Syndrome is a rare neurological disorder that strikes primarily young girls.

Rett Syndrome is a debilitating neurological disorder diagnosed almost exclusively in females. Rett Syndrome has been thought to affect 1 in 10,000 females. It is now believed, however, that the prevalence rate of Rett may be much higher. Although rare, it is possible for boys to also have the disorder.

Children with the disorder are born without any signs of the syndrome, but they lose their ability to speak by the age of two. Then the children become profoundly disabled, requiring 24 hour assistance with every aspect of daily living.

Facts about Rett Syndrome

  • Loss of speech and motor control

  • Functional hand use replaced by compulsive hand movements

  • Disordered breathing

  • Severe digestive problems

  • Orthopedic abnormalities including scoliosis and fragile bones

  • Disrupted sleep patterns

  • Extreme anxiety

  • Seizures

  • Impaired cardiac and circulatory function

  • Parkinsonian tremor

Symptoms

  • Children with Rett Syndrome appear to develop normally until 6 to 18 months of age.

  • A regression robs the child of speech and hand skills.

  • Motor-control problems, repetitive hand movements, irregular breathing, seizures, scoliosis and teeth grinding are all common symptoms.

  • Mutations in the MeCP2 gene cause Rett Syndrome but have also been found in patients diagnosed with autism, schizophrenia, learning disabilities and neonatal encephalopathy. The biochemical mechanism of MeCP2 has been implicated in cancer.

  • Rett Syndrome leaves its victims profoundly disabled and completely dependent on others for every basic need.

  • Rett Syndrome knows no boundaries. It strikes all racial, ethnic and religious groups equally.

  • There are no cures or treatments for Rett Syndrome.

Because Rett syndrome is genetic, there is currently no cure. However, our Rett Clinics focus on managing symptoms and supporting the best possible quality of life for the Rett child. It is part of RMRA’s mission to support finding a cure for this terrible disease. Thanks to specialists that work at Rett Clinics, scientists are gathering data to help find a cure. Check out the National Library of Medicine - ClinicalTrials.gov and enter Rett Syndrome in the search box to see what is currently researched. Also don’t forget to check with the IRSF - International Rett Syndrome Foundation regarding new trials.

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