What is Rett Syndrome? How do you get Rett Syndrome?

  • Usually affects girls from 6 to 24 months leading to devestating loss of developed skills.
  • Results in life-long disability - over half will never walk and develop epilepsy and seizures.
  • In almost all cases girls loose their speech and use of their hands.
  • Is usually caused by a single random (not inherited) genetic mutation.
  • Has been shown in the lab that correcting the faulty gene leads to a cure for Rett Syndrome.

Rett Syndrome is caused by a random genetic mutation on the x-chromosome that can occur in any boy or girl. It becomes apparent between the age of 6 months and 2 years. Boys usually die within their first year. Girls go through a period of regression where they lose the ability to walk, speak, use their hands, and often to eat properly. Seizures can develop as well as breathing problems, scoliosis (curvature of the spine), gut failure and even premature sudden death.

Symptoms of Rett Syndrome

Motor control is severely affected, including walking and use of hands, and in some cases eating and swallowing. Epilepsy and seizures are present in over half of all cases. A defining symptom of the condition is compulsive hand movements in a washing or wringing manner. Irregular breathing and extreme anxiety are common. Gastro-intestinal issues lead to weight loss and a feeding tube is often required. Other symptoms include impaired circulatory and cardiac functions and Parkinson-like tremors. Major Surgery is usually required to correct scoliosis.

What causes Rett Syndrome?

Rett syndrome is usually caused by a single mutation on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene, most of these mutations are found in eight different “hot spots.” This mutation leads to underproduction of an essential protein in the brain.

Gene mutations found in Rett Syndrome are usually "de novo" - this means simply that they are new, random mutations found in each individual. It is highly unusual for Rett Syndrome to passed down from parent to child.

How is Rett Syndrome diagnosed?

Rett Syndrome is often misdiagnosed as Autism, Cerebral Palsy, or Nonspecific Developmental Delay. It can be confused with Angelman Syndrome. It is usually confirmed with a blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.

Things you should know about Rett Syndrome

  • Rett syndrome has a ‘spectrum’ and the symptoms displayed are determined by the location, type and severity of mutation as well as the X-inactivation. Therefore, two girls with the same mutation may develop quite differently.
  • Rett Syndrome is a leading genetic cause of severe disability in females. It is as prevalent as Cystic Fibrosis, yet still relatively unknown outside of the scientific community.
  • Girls and women with Rett Syndrome are now known to be operating at a much higher level mentally than was formerly suspected. Studies have shown that these girls and women are far more capable than they were previously given credit for.
  • By restoring the full protein, it has been shown in the lab that it is possible to recover brain function, leading to a cure. Rett Syndrome does not directly cause any underlying damage to the brain. It is possible to completely reverse Rett Syndrome.

A cure for Rett holds the key to treating other conditions

Research has proven that when reduced protein levels in the brain are returned to normal, symptoms disappear and Rett Syndrome becomes a curable condition. There is a global network of researchers currently working to cure and reverse the symptoms of Rett Syndrome.

Rett Syndrome could hold the key to unlocking a cure for millions of people suffering from other neurological conditions. The research being done could help more than just girls and women with Rett Syndrome. It is believed by scientists that it could lead to better understanding of Alzheimer’s, Autism, Bipolar Disorder, Parkinsons and Schizophrenia. Scientists agree that Rett Syndrome could be the first curable brain disorder, leading the way to exciting discoveries in a whole host of other conditions.