Rett syndrome (RTT)

What is Rett syndrome (RTT)?

Rett syndrome is a rare genetic condition that mainly affects girls. It is a neurological syndrome that is diagnosed in infants between the ages of 6-18 months.

It is a progressive condition and one of the first symptoms is a regression in development. It affects around 1 in 10,000 girls.

This rare neurological condition affects all areas of an affected individual's development, including their ability to walk, eat, speak and breathe.

What gene changes cause Rett syndrome (RTT)?

Mutations in the MECP2 gene are responsible for the syndrome. 99% of mutations are new mutations.

The syndrome is present almost exclusively in girls, and male infants with a mutation in the MECP2 rarely survive infancy.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Rett syndrome (RTT)?

The symptoms of the syndrome usually appear between the ages of 6-18 months in female infants who appeared to be developing normally from birth.

Slowed and regressive development is one of the initial symptoms of the syndrome. A major symptom is constant, repetitive hand movements.

Other symptoms include intense starting, excessive blinking, cold hands and feet, problems sleeping, and autistic-like behaviors.

The syndrome eventually affects speech, walking, feeding and breathing ability.

How does someone get tested for Rett syndrome (RTT)?

The initial testing for Rett syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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