Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted.

The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov.

Updates regarding government operating status and resumption of normal operations can be found at OPM.gov.

How do healthcare providers diagnose Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS)?

Healthcare providers can order a blood test to determine if a person who has symptoms of FXTAS is a carrier. A laboratory will conduct the tests to determine what form of the FMR1 gene is present.1 (Read a detailed explanation of the genetics of the FMR1 gene in the section How are genes altered in fragile X-associated disorders?)

However, FXTAS is often misdiagnosed. The condition was identified only recently―in 2001—so it is not as familiar to healthcare providers as other common disorders in seniors, such as Alzheimer's disease and Parkinson's disease. The similarity of symptoms can lead some healthcare providers to pursue those conditions before considering FXTAS. Many of the FXTAS symptoms, such as memory problems and balance problems, may also be seen as natural parts of aging.

A healthcare provider may use a combination of a blood test, symptoms, and information from brain imaging, such as magnetic resonance imaging (MRI), to confirm a FXTAS diagnosis.2 In about one-half of men and one-fifth of women with FXTAS, MRIs show white matter lesions (areas of dead cells) in the middle cerebellar peduncle of the brain.3

Citations

  1. National Fragile X Foundation. (2012). Fragile x syndrome testing & diagnosis. Retrieved August 21, 2012, from  https://fragilex.org/understanding-fragile-x/fragile-x-101/testing-diagnosis/ external link
  2. Leehey, M. A. (2009). Fragile X-associated tremor/ataxia syndrome (FXTAS): clinical phenotype, diagnosis and treatment. Journal of Investigative Medicine, 57, 830–836.
  3. Finucane, B., Abrams, L., Cronister, A., Archibald, A. D., Bennett, R. L., & McConkie-Rosell, A. (2012). Genetic counseling and testing for FMR1 gene mutations: Practice guidelines of the National Society of Genetic Counselors. Journal of Genetic Counseling, 21(6), 752–760. Retrieved March 21, 2018, from https://fragilex.org/wp-content/uploads/2012/01/Genetic-Counseling-and-Testing-for-FMR1-Gene-Mutations-Practice-Guidelines-of-the-National-Society-of-Genetic-Counselors.pdf  (PDF 199 KB)
top of page BACK TO TOP