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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fragile-x-tremorataxia-syndrome/overview/9531 • DATE UPDATED: 2016-06-05

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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