Fragile X-Associated Conditions

A family of three, mom, dad, and son, at the NFXF International Fragile X Conference.

Traditionally, a carrier of a genetic mutation is defined as a person who inherits an altered form of a gene but shows no effects of that mutation. However, in Fragile X, this definition does not exactly fit, as carriers of a premutation are at risk of developing Fragile X-associated conditions and disorders, including FXTAS and FXPOI.

An older male with FXTAS and his caretaker and partner.

FXTAS

Fragile X-associated tremor/ataxia syndrome, or FXTAS, is a late-onset neurodegenerative disorder seen more commonly in males. Learn more about who should be tested, the diagnostic criteria for a diagnosis, resources, and clinic options.

Visit FXTAS →

FXPOI

Fragile X-associated primary ovarian insufficiency, or FXPOI, causes the ovaries to lose their normal function. Learn more about the prevelance of FXPOI, signs and symptoms, testing, and treatment options.

Visit FXPOI →

Two women participants of an X Strides fundraising event
Two scientists

New Developments

Discover research currently underway to look at various issues that may be seen in people with the Fragile X premutation, and associated conditions.

Visit New Developments →