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SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Fragile X-associated tremor ataxia syndrome
Other Resources UpToDate PubMed

Fragile X-associated tremor ataxia syndrome

Contributors: Jamie Adams MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

Fragile X-associated tremor ataxia syndrome (FXTAS) is a hereditary (X-linked dominant) neurodegenerative disorder. The disorder results in intention tremor and ataxia. Tremor typically precedes ataxia by a few years. Other associated symptoms include mild cognitive impairment, dysautonomia, parkinsonism, mood instability, and/or peripheral neuropathy.

Onset of disease is typically after age 50. It affects men more frequently and more severely than women. In women, it may be associated with premature ovarian failure resulting in early menopause, hypothyroidism, or fibromyalgia. Progression is variable, ranging from gradual to rapid. There is no cure, and management is symptomatic.

Related topic: fragile X syndrome

Codes

ICD10CM:
G11.2 – Late-onset cerebellar ataxia

SNOMEDCT:
448045004 – Fragile X associated tremor ataxia syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Essential tremor
  • Parkinson disease
  • Multiple system atrophy
  • Progressive supranuclear palsy
  • Spinocerebellar ataxias
  • Vitamin E deficiency
  • Abetalipoproteinemia
  • Wilson disease
  • Multiple sclerosis
  • Alcohol / drug toxicity
  • Cerebellar tumor
  • Paraneoplastic cerebellar degeneration
  • Vitamin B12 deficiency
  • Thyroid dysfunction

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:12/05/2019
Last Updated:09/11/2023
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Fragile X-associated tremor ataxia syndrome
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A medical illustration showing key findings of Fragile X-associated tremor ataxia syndrome : Ataxia, Erectile dysfunction, Memory impairment, Proximal muscle weakness, Peripheral neuropathy, Intention tremor, Impaired cognition, Postural tremor
Copyright © 2024 VisualDx®. All rights reserved.