Fragile X-Associated Tremor /
Ataxia Syndrome (FXTAS)
FXTAS (also known as Ataxia Syndrome) is a late onset neurological condition affecting premutation carriers of Fragile X Syndrome. There is no evidence of people diagnosed with full mutation Fragile X Syndrome 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 with age.
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 and some people may find getting the right diagnosis more difficult.
In addition, FXTAS affects everyone 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 individual’s 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 review our Carriers & FXPAC section. You can also contact our Families and Professionals Advisors for more detailed information on the condition.