What are the symptoms of Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS)?

Although FXTAS affects individuals differently, the symptoms of the disorder are similar to those of Parkinson's or Alzheimer's disease, including memory loss, slowed speech, tremors, and a shuffling gait.1 Some people will have many symptoms that appear quickly and get worse over time. Others have only a few mild symptoms.2

Men have slightly different symptoms of FXTAS than women do. Symptoms of FXTAS in men include3:

  • Balance problems, called ataxia
  • Intention tremor (shaking when trying to perform purposeful movements, such as touching one's nose or grabbing something)
  • Parkinson's-like symptoms, such as muscle stiffness or rigidity, a shuffling gait or walk, and slowed speech
  • Memory loss, including forgetting how to do things that were once done easily (such as balancing a checkbook), getting lost going to familiar places, or forgetting the names of everyday objects
  • Irritability and moodiness
  • Low blood pressure
  • Numbness or burning in the hands and feet
  • Incontinence
  • Impotence
  • Loss of reading skills and math skills
  • Difficulty learning new things

Women with FXTAS may have the following symptoms3:

  • High blood pressure
  • Balance problems, called ataxia
  • Premature ovarian failure
  • Intention tremors
  • Seizure disorders
  • Thyroid problems (usually an underactive thyroid gland, called hypothyroidism)
  • Muscle pain such as fibromyalgia

Symptoms of FXTAS usually develop after age 50. The average age of people newly diagnosed with FXTAS is about 61.2

Citations

  1. Hagerman, R. J., Hall, D. A., Coffey, S., Leehey, M., Bourgeois, J., Gould, J., et al. (2008). Treatment of fragile X- associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clinical Interventions in Aging, 3, 251–262.
  2. National Fragile X Foundation (n.d.). FXTAS. Retrieved May 7, 2012, from https://fragilex.org/understanding-fragile-x/tremor-ataxia-syndrome-fxtas/#1496334291258-7032a8aa-e350 external link
  3. Jacquemont, S., Farzin, F., Hall, D., Leehey, M., Tassone, F., Gane, L., et al. (2004). Aging in individuals with the FMR1 mutation. American Journal of Mental Retardation, 109, 154–164.
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