Fragile X Syndrome

Genetic Disorder

What is Fragile X?

Fragile X syndrome is a disease that is inherited by parent to offspring that attacks the FMR1 gene on a persons X chromosome.

What happens?!

  • Fragile X syndrome is a mutation in the x chromosome of the body. This mutation attacks the gene FMR1 which is located on the X chromosome. This protein is important because it is used to develop neuronal connections with the brain. However the mutation causes a stop in the making of this protein leaving the brain without the neuronal connections, which can lead to serious problems.
  • This mutation is inherited and not directly related to environmental factors, but can be passed on from a parent to the child even if the parent does not have Fragile X.
  • People with Fragile X syndrome may have connective tissue problems where they have flat feet, double-jointed fingers, high arched palate, hyper-flexible joints, and ear infections. Large ears, soft skin, long faces and large testicles in post-pubertal males may be some signs that you have Fragile X Syndrome.

What people are at risk?!

  • Fragile X syndrome can be passed on to children from the parents through thier genes. A male who has Fragile X Syndrome will pass the disorder on to all his daughters. Whereas if a female has this disorder the have a 50% chance of passing it down to their sons and daughters. Fragile X Syndrome is the dominant trait.
  • The demographic, on a global scale is that fragile x affects are 1 person in every 4000 males, and 1 in every 8000 females.
  • This being said males are more likely to be affected by fragile x than females are.
  • This is a sex linked disorder because it happens on the X chromosome in the body, which is also why males are more affected than females; because males only have 1 x chromosome and females have 2.

How do doctors tests for FXS?

  • Children affected do not always show symptoms at birth, normally a girl will be diagnosed with FXS around 42 months and boy is typically diagnosed around 35 to 37 months old.
  • One way that FXS can be diagnosed is with a blood test, this blood will then be sent to a lab to be tested.

Signs and Symptoms

Some physical symptoms are:

  • soft skin
  • large body
  • long face
  • flat feet
  • large forehead
  • flexible joints.

The behavioral symptoms are:

  • mental retardation
  • slow development of crawling and walking
  • hyperactivity
  • speech problems
  • clapping or biting hands
  • avoiding eye contact.

Treatment options

  • Fragile X doesn't have a specific medication for it, however medications that treat hyperactivity are often helpful.
  • Special education and therapy services are often used to help children who have fragile x in order for them to be as fully functioning as possible.
  • Research is currently being done to test the theory that replacing the bad gene could fix fragile x, but no definitive therapy has been created.
  • Also a person with FXS can get genetic counseling to be more aware of the likelihood of them passing it down to their children if it runs in their family.