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Possible health concerns for carriers of fragile X syndrome


  • Most carriers of fragile X syndrome will not have any symptoms of fragile X syndrome, although some may have mild learning or emotional problems. They may also be affected by conditions know as FXPOI or FXTAS.
  • At this stage we do not know if people with grey zone mutations are at risk of these conditions.

FXPOI – Fragile X-associated premature ovarian insufficiency

  • FXPOI describes a condition where women have reduced fertility and may have early menopause (occurring before the age of 40).
  • Approximately 1 in 5 (20%) female carriers of fragile X syndrome will have FXPOI.
    • This risk may influence the woman’s decision making about when in her life she will choose to have children.

FXTAS - fragile X-associated tremor/ataxia syndrome

  • Both male and female carriers have a chance of developing fragile X-associated tremor/ataxia syndrome (FXTAS) later in life.
    • FXTAS causes hand tremors, balance problems and dementia which grow progressively worse with age.
    • The symptoms usually appear after the age of 50 and grow progressively worse over time.
    • Initial signs include difficulty writing, using utensils and problems with walking.
    • Other issues include short-term memory loss, anxiety, decreased sensation to touch in the lower extremities and rigidity in movement.
    • FXTAS is much more common in males than females.