Normally, molecules in the genes efficiently encode and guide the production of proteins. These proteins, in turn, guide the development and function of the body and brain. In patients with fragile X syndrome, a gene, which should hold a string of three coding molecules that repeat six to 50 times, is over-expanded. The excess muddles the instructions needed for the creation of a specific protein. The level of fragile X protein in a person with the syndrome is low or nonexistent - the lower the level, the greater the mental impairment.
Side effects range from mild learning and attention disabilities to severe mental retardation.
Treatments that target specific biochemical malfunctions in the disorder. Fragile X syndrome affects approximately one out of every 2,000 males and one out of every 4,000 females. The subtle physical signs, including large ears and a long face, make the disease hard to detect. New diagnostic methods that screen a person's genetic makeup, however, are helping physicians identify the condition. In addition, new research is setting out to provide fragile X patients with customized treatments.