Wednesday, October 5, 2011

Fragile X

What is Fragile ?
Fragile X is a genetic disorder that involves change in part of X chroosome inherited intellectual disability
(menatl retardation) in boys.
-Fragile X is also know as Autism
-More common in males than in females
-Martin Bell syndrome or Marker X syndrome

Quiz

  1. What is Fragile X ?
  2. What are 3 symptoms of Fragile X ?
  3. Is Fragile X a disease or disorder?
  4. How does this sydrome effect thet body ?
  5. How do you get Fragile X ?

Work Cited

http://www.fragilex,org/html/history.htm
http://nicd.nih.ggov/publications/pubs/fragileX/sub6.cfm

History

-1910 Thomas Hunt Morgan demonstrates that when a gene is located on the X chromosome of the fruit fly, the characteristic appears more frequently in males than in females.
-1943 Martin Bell showed that a particular form of mental retardation is X-linked.
-1969 Herbert Lubs finals visual proof of the linkage if mental retardation and the X-chrormosome.




Causes

Causes of Fragile X is :
  • Mutation to a certain gene named FMR1 that is responsible for making the protein that is imperative for brain development.
  • FMR1 stands for "Fragile X Mental Retardation 1.
  • This disorder is recessive
  • The X chromrosome is involved in this syndrome. The female has two X chromosomes while the male only has one .
  • Autosomal homozygous recessive

Treatment and Cure

There is no treatment or cure for Fragile X. There are medicenes that can be taken to reduce some sympoms, but nothing that can be done to fix it right now.

Diagnosis

Blood Test can be taken for diagnosis along with DNA test.

How is Autism Prevented ?

Autism cannot be prevented. Autism is a genetic disorder that is passed down from your parent rather one of you parents are a carrier or have the actual disorder.

Symptoms

Symptoms of Fragile X are:
  • Behavorial, Social, and Emotional Issues
  • Intelligence in learning
  • Speech and Language Issues
  • Large Ears
  • Soft Skin
  • Flexible Joints
  • Low muscle tone
  • Flat Feet
  • Long Face
  • Seizures
The symptoms of this disorder are milder in women. Women with autism can see early menopause and infertility along with other sypmtoms listed above.
Fragile X effects victims lives in long run. It's hard fror autism patients to keep a steady job, control their behavior and keep a healthy relationships.

Current Research on Fragile X

Researchers have recently been working on creating a single drug for the disorder. Organizations everywhere are doing all they can to save as many lives as they can and are educating all about Fragile X to prevent worser things from happening. There are programs at Rush University Medical Center researching about this disorder and offer a clinic to those patients who have is syndrome.
-Autism Speaks is a foundation for Fragile X that is pushing Fragile X awareness and doing all in there power to come up with treatment for this disorder. Along with ways to create a longer and more enjoyanle life for those diagnosed.
http://www.autismspeaks.org/

Fragile X Video