Symptoms

Fragile X Syndrome is the most common known cause of autism worldwide. It can cause learning problems, intense anxiety, seizures, and more. There are also characteristic physical signs, such as large ears and a long face, but not everyone shows these signs. It tends to be more severe in boys than in girls.

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Cause

Fragile X is caused by one gene which is located on the long arm of the X chromosome. This gene, FMR1, shuts down and fails to produce a protein, FMRP, which is vital for normal brain development. People who have Fragile X syndrome are missing this single protein.

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Diagnosis

A DNA test for Fragile X is widely available and very accurate. This blood 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 yet ... FRAXA is working to change this. Appropriate education and therapies can help and many medications are available that target symptoms.

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Iryna Ethell UC Riverside, FRAXA researcher