FXTAS: Fragile X-Associated Tremor/ Ataxia Syndrome
FXTAS is a late onset neurological condition affecting premutation carriers of fragile X syndrome. There is no evidence of people with full mutation fragile X developing FXTAS.
Recent estimates suggest that 30-40% of male premutation carriers will exhibit some features of FXTAS and 8-16% of female premutation carriers may develop symptoms too. Female carriers tend to have milder or more subtle effects. It is important to note that the risk of developing FXTAS does increase the older the person gets.
Intention tremor (shaking during purposeful movement)
Ataxia (balance and coordination difficulties)
Numbness in the extremities (neuropathy)
Cognitive symptoms including anxiety and memory loss
Research into FXTAS is ongoing but there is much work to do. As a result, many health care professionals may not be aware of its significance so some people may find getting the right diagnosis more difficult.
Also, FXTAS affects each individual differently with some individuals managing their symptoms well for long periods of time. Each symptom is treated according to its presentation and severity by the relevant medical specialists involved in the individuals care. This is because there are no specific treatments for FXTAS yet.
If you have any concerns or would like to know more about FXTAS please down load our leaflet. You can also contact the Fragile X Society for more detailed information (by emailing firstname.lastname@example.org )