Fragile X syndrome

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By Bhagwan Moorjani MD

Fragile X syndrome is also known as or subsumes Martin-Bell syndrome. -ed.

Fragile X syndrome is a classic neurologic disease with unique manifestations on the clinical and molecular level. It is the most common cause of mental retardation and can render symptoms of speech and developmental delay. Further, it represents one of the many important inherited diseases that are caused by expansions or amplification of short DNA repeats on specific genes. In this article, Dr. Michelle Ann Cerilles of Weill Cornell Medical College and Dr. Bhagwan Moorjani of Hope Neurologic Center in Orange, California help elucidate the significance of the fragile X syndrome as well as the newly described fragile X tremor-ataxia syndrome (FXTAS) for both younger and older patients and will provide insight on the potential benefits of a diagnostic workup and particular situations where a screening may be beneficial. It will also point to current research that has lead to possible future treatments for symptoms of fragile X syndrome.