Orphanet: Fragile X associated tremor ataxia syndrome

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Fragile X-associated tremor/ataxia syndrome

Disease definition

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.


Classification level: Disorder
  • Synonym(s):
    • FXTAS syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: X-linked dominant 
  • Age of onset: Adult
  • ICD-10: G11.2
  • OMIM: 300623
  • UMLS: C1839780  C3164069
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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