Symptoms

Autism, intellectual disabilities, and intense anxiety are common. There are also characteristic physical signs, such as large ears and a long face, but not everyone shows these signs.

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Cause

A single gene on the X chromosome - FMR1 - shuts down because of a mutation. It fails to produce a protein - FMRP - needed for normal brain development.

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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.

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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