Symptoms

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.

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Cause

Fragile X syndrome is a rare or orphan disease which affects 1 in 5000 people. 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.

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Diagnosis

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.

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Treatment

There is no specific treatment or cure for fragile X — just yet. FRAXA’s sole mission is to find a cure. Hundreds of FRAXA researchers worldwide are in their labs right now testing, seeking, exploring — all to find a cure or seek advanced treatments. Appropriate education and therapies may help and many medications are available today that target symptoms.

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Iryna Ethell UC Riverside, FRAXA researcher