Fragile x tremor/ataxia syndrome

Overview

What is Fragile X Tremor/Ataxia syndrome?

Fragile X Tremor/Ataxia syndrome (FXTAS) is a genetic condition that affects mostly males (over the age of 50) and some females with an abnormal expansion in the FMR1 gene. This abnormal expansion is called a premutation. Not everyone with an FMR1 premutation will develop FXTAS. Symptoms of FXTAS in males include: tremors or trembling of one’s hands when using them (for example, when reaching for an object), balance problems (also known as ataxia), unintentional shaking of body parts, loss of short-term memory, loss of math or spelling skills, difficulties making decisions, numbness or burning feeling of the hands and feet, personality or mood changes (for example, increased irritability, inappropriate behavior, or any changes in behavior that is not typical of the person’s previous personality), and difficulties planning, organizing, and performing everyday tasks. Females can experience the same symptoms as males, but are usually less severe. In addition, females can also experience fibromyalgia or generalized muscle pain, thyroid disorders, and/or seizure disorders. As of April 21, 2016, there is currently no specific treatment for FXTAS.

References
  • Saul, R. A., & Tarleton, J. C. (2012). FMR1-Related Disorders. GeneReviews.
  • National Fragile X Foundation. (2016). FXTAS. Retrieved 04 2016, from National Fragile X Foundation: https://fragilex.org/fragile-x/fxtas/
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What is Fragile X Tremor/Ataxia syndrome called most often by doctors?

Are there other names for Fragile X Tremor/Ataxia syndrome?

How many people have Fragile X Tremor/Ataxia syndrome?

What is the usual abbreviation for Fragile X Tremor/Ataxia syndrome?

What is Fragile X Tremor/Ataxia syndrome called most often by doctors?

Fragile X Associated Tremor and Ataxia syndrome is most commonly called FXTAS by doctors. This is pronounced "Fax-tas." It can also be called FMR1 Related Disorder.

References
  • National Fragile X Foundation. (2016). FXTAS. Retrieved 04 2016, from National Fragile X Foundation: https://fragilex.org/fragile-x/fxtas/
  • Saul, R. A., & Tarleton, J. C. (2012). FMR1-Related Disorders. GeneReviews.
Are there other names for Fragile X Tremor/Ataxia syndrome?

Other names for Fragile X Tremor/Ataxia syndrome (FXTAS) include: Fragile X-associated tremor and ataxia syndrome. It can also be called FMR1 Related Disorder. It is most commonly called FXTAS (Fax-tas).

References
How many people have Fragile X Tremor/Ataxia syndrome?

Fragile X Tremor/Ataxia syndrome is caused by a premutation in the FMR1 gene. It is estimated that about 1 out of 260 females and 1 out of 800 males in the general population are FMR1 premutation carriers. About 40% of males with a premutation over the age of 50 and about 8%-16% of females over the age of 50 develop FXTAS.

References
  • Berry-Kravis, E., Abrams, L., Coffey, S. M., Hall, D. A., Greco, C., Gane, L. W., et al. (2007). Fragile X-Associated Tremor/Ataxia Syndrome: Clinical Features, Genetics, and Testing Guidelines. Movement Disorders, 2018-2030.
  • Fragile X Clinical & Research Consortium. (2012, October). National Fragile X Foundation. Retrieved April 2016, from Consensus of the Fragile X Clinical & Research Consortium on Clinical Practices Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): https://fragilex.org/wp-content/uploads/2012/08/Fragile-X-associated-Tremor-Ataxia-Syndrome2012-Oct.pdf
What is the usual abbreviation for Fragile X Tremor/Ataxia syndrome?

The usual abbreviation for Fragile X Tremor/Ataxia syndrome is FXTAS.

References

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