What is Fragile X Syndrome

Fragile X Syndrome, also known as Martin Bell Syndrome, is the most common inherited cause of intellectual disability. It is a genetic condition that affects both males and females and is the only known genetic link to autism. Fragile X is caused when the FMR1 gene turns off or shuts down and in doing so, does not produce enough protein. The best test to diagnose Fragile X is doing blood work and having a DNA test for Fragile X. Depending on the degree of impairment, a child diagnosed with Fragile X can have intellectual disability, autism, developmental delays, problems with speech and language, and sensory integration issues. For more specific information about Fragile X, please visit the resources listed below.

More about Fragile X research

Current Statistics show that 1 in 250 women are carriers and 1 in 800 men are carriers of the FMR1 gene. While 1 in 400 males and 1 in 6-8000 females are affected by Fragile X Syndrome. In addition to he person that is affected with Fragile X, this condition affects the entire family. Related disorders, FXPOI (Fragile X associated Primary Ovarian Insufficiency) and FXTAS (Fragile-X associated Tremor/Ataxia Syndrome) also affect carriers.


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