Do you know what that means?
Fragile X-Associated Tremor/ Ataxia syndrome is a neurological condition that occurs in adult carriers of the Fragile X gene. It has been mistaken for Parkinson’s, Alzheimer’s, dementia and stroke in the past, in fact, FXTAS was only identified in 2001, so it is not well known. FXTAS occurs more often in men, but does present in women also.
FXTAS symptoms include:
“Intention” tremors — shaking that often occurs when reaching for or pouring something
* Balance problems (ataxia) that cause falling or instability while walking
* Numbness in the extremities (neuropathy)
* Mood instability, irritability, and other changes in personality
* Short-term memory loss and gradual intellectual decline
The diagnosis is based on 3 factors:
1) Positive carrier testing for the FMR1 premutation,
2) A neurological exam that affirms the above characteristics, and
3) Magnetic Resonance Imaging (MRI) findings that are known to be related to FXTAS, including white matter changes or decreased size of the brain.
Often, FXTAS is identified when a grandchild has a positive Fragile X test. Carrier testing is done & the family (or patient) has an “aha!” moment, realizing the carriers symptoms match FXTAS criteria.
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