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.

Get the word out there! Support Fragile X.


5 thoughts on “FXTAS

  1. FXTAS is fairly new to the medical world…less than 5 years I think. A lot of people were misdiagnosed with parkinsons or other similar disorders. Thanks for bringing attention to this disorder šŸ™‚

  2. My husband has FXTAS – took five years to diagnose!! It’s a horrid condition, but he has been stable for a few years after years of decline. He’s very disabled, but I feel like an expert on the subject. Leave a message on my blog if you want to know anything about it!

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