What is Fragile X Syndrome?

Fragile X syndrome is the most common known cause of autism worldwide. Fragile X may cause intellectual disability, learning and behavioral challenges, and – sometimes – seizures. It tends to be more severe in boys than in girls. New situations may cause a child with fragile X syndrome to become severely anxious or afraid.

Fragile X syndrome is a rare or orphan disease which affects 1 in 4000 males and 1 in 8000 females. It occurs when a single gene, FMR1, on the long arm of the X chromosome, shuts down and fails to produce a protein, FMRP, which is vital for normal brain development. Fragile X is inherited.

A simple DNA blood test for fragile X syndrome is widely available and very accurate. This test can detect carriers and fully affected individuals. Any doctor can order the test. Unlike many genetic diseases, it may not be apparent that a person has fragile X. It can be subtle or severe. Some girls have no signs at all.

There is no cure for fragile X — yet. FRAXA’s mission is to find effective treatments and, ultimately, a cure. Hundreds of FRAXA researchers are in their labs now testing, exploring — all seeking to accelerate progress. In the meantime, appropriate education and therapies may help and medications are available that target symptoms.