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FRAGILE X SYNDROME

Fragile X syndrome also called Martin-Bell syndrome is a genetic disorder that will cause a range of developmental problems such as learning disabilities and cognitive impairment. This disorder is more common in males than females.

Individuals with Fragile X syndrome have the following signs and symptoms. These are:

  • Speech and language problems by age 2
  • Affected males suffer mild to moderate intellectual disability while affected females are intellectually disabled
  • Anxiety is common
  • Hyperactivity which includes fidgeting, restlessness or impulsive actions
  • ADD or attention deficit disorder may be also present
  • One in every three affected individuals may have features of autism spectrum disorders where the communication and social interaction skill is affected.
  • Seizures can also be shown, though it is more common in males than females

Both male and female that is affected by fragile X syndrome will have significant physical features that will become more apparent with age but is more common in males. The features will be a long and narrow face, with large ears, prominent jaw and forehead, very flexible fingers, flat feet and in males macroorchidism or enlarged testicles is prevalent after puberty.
The cause of fragile X syndrome is a defective gene located on the X chromosome. The X chromosome is one of the sex chromosomes present in each one of us. Women have two x chromosomes while men have one X chromosome and one Y chromosome. The mutation in the gene that causes fragile X syndrome prevents the gene from producing a protein that plays an important role in the proper functioning of the nervous system. If there is a lack or shortage of this protein, it will result in fragile X syndrome.

Once you have fragile X syndrome, you have the condition forever and it can greatly affect all facets of a person’s life such as the individual’s schooling, work, and social life.

To learn more about fragile X syndrome and its treatment, please visit:
http://www.healthline.com
http://emedicine.medscape.com
https://medlineplus.gov

If you think you are suffering from Fragile X Syndrome you should seek medical assistance. You may also be entitled to Social Security Disability Benefits. The SSA considered Fragile X Syndrome as a medical condition that would make you eligible for SSDI and SSI. Social Security Administration (SSA) maintains a “Listing of Medical Impairments” (known as the blue book) that automatically qualify you for Social Security Disability Insurance (SSDI) or Supplemental Security Income (SSI).