What is Rett Syndrome ?


Rett syndrome is a unique postnatal neurological disorder that is rst recognized in infancy and seen almost always in girls, but can be rarely seen in boys. Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specic developmental delay Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 dierent mutations found on the MECP2 gene. Most of these mutations are found in eight dierent “hot spots.” Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. Rett syndrome is a postnatal neurological disorder. It is not a degenerative disorder.

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News Medical: Rett Syndrome

It is a parent's nightmare: a child is born apparently healthy, then stops meeting developmental milestones at one year old. Her verbal and motor skills vanish, and irregular breathing, seizures, and a host of other problems appear.

A study from a team of Massachusetts General Hospital (MGH) investigators points toward a potential strategy for treating X-linked disorders - those caused by mutations in the X chromosome - in females.

A new collaborative study led by researchers at Sanford Burnham Prebys Medical Discovery Institute and UC San Diego School of Medicine has found that a medication used to prevent and treat malaria may also be effective for Zika virus.