II. Epidemiology
- Affects 30% men with FRM1 premutation 50-60 years old
III. Mechanism
- Related to Fragile-X Mental Retardation (FMR1) gene
IV. Clinical findings
- Progressive Intention Tremor with cerebellar Ataxia
V. Presentation
- Parkinsonism
- Peripheral Neuropathy
- Dementia after age 50 years
VI. References
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Related Studies
| 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) |
