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Fragile X Syndrome

Also called: FRAXA 

Fragile X syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X.

People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include

  • Intelligence problems, ranging from learning disabilities to severe mental retardation
  • Social and emotional problems, such as aggression in boys or shyness in girls
  • Speech and language problems, especially in boys

Fragile X has no cure. You can treat some symptoms with educational, behavioral or physical therapy, and with medicines. Getting treatment early for Fragile X can help.

NIH: National Institute of Child Health and Human Development

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