II. Epidemiology

  1. Affects 30% men with FRM1 premutation 50-60 years old

III. Mechanism

  1. Related to Fragile-X Mental Retardation (FMR1) gene

IV. Clinical findings

  1. Progressive Intention Tremor with cerebellar Ataxia

V. Presentation

Images: Related links to external sites (from Bing)

Related Studies (from Trip Database) Open in New Window

Ontology: FRAGILE X TREMOR/ATAXIA SYNDROME (C1839780)

Concepts Disease or Syndrome (T047)
MSH C564105 , C580109
SnomedCT 448045004
English FXTAS, FRAGILE X TREMOR/ATAXIA SYNDROME, Fragile X associated tremor ataxia syndrome (disorder), Fragile X associated tremor ataxia syndrome, Fragile X Tremor Ataxia Syndrome, Fragile X-Associated Tremor/Ataxia Syndrome, Fragile X Tremor/Ataxia Syndrome, Fxtas
Spanish síndrome de temblor y ataxia asociado al cromosoma X frágil, síndrome de temblor y ataxia asociado al cromosoma X frágil (trastorno)