What is the fragile x syndrome?

The fragile x syndrome is a congenital defect that occurs in approximately 2 of each 10,000 live births. It is more common in men, occurring in about 1 in 3,600 and about 1 out of 4,000-6,000 women. The fragile x syndrome can cause slow growth, mental retardation and other developmental delays. It represents about 2-3 percent of undiagnosed mental damage. This mutation causes a fragile gene of mental retardation x (FMR-1) to produce protein FMR-1, causing syndrome. Because women have two X chromosomes, one of the chromosomes may have a "good" copy of the FMR-1 gene, which tends to reduce the effects of FMR-1 gene on the second X chromosome. On the other hand, they usually have a more serious manifestation of syndrome because they have no other X chromosome to compensate. In particular, males may have longer faces and ears, hyper flexible joints and other connective tissue problems. Often show problems with behavior and autism is truly a common manifestation withyndrome fragile x in men. Females may also have behavior problems, but generally to a lesser extent.

The fragile X syndrome is often diagnosed in early childhood, if the developmental delay is pronounced, but mild cases may not be diagnosed until adulthood, if at all. DNA test is available and 99 percent for the syndrome.

There is no cure for the fragile X syndrome. The child receives the therapy of behavior problems, if necessary physical therapy, help with special education and other assistance as needed. Most patients will need an aléic team of doctors and therapists who cooperate to help one achieve as much as possible. For people with severe fragile X syndrome, parents will have to consider preliminary life planning at a time when they can no longer take care of their child. A social worker and lawyer may be the sameThe team of the team for planning treatment and life to create financial and life arrangements for those persons.

In timely intervention, patients with fragile x syndrome are often able to live a happy and productive life despite their physical and mental challenges.