Fragile X Tremor Ataxia Syndrome

An ataxia caused by expanded TRINUCLEOTIDE REPEATS in the FMR1 gene on the X chromosome. Occurs predominantly in men over 50 years of age. In addition to ataxia, TREMOR, brain atrophy, and DEMENTIA also occur. OMIM: 300623

Also Known As:

FXTAS Fragile X Tremor Ataxia Syndrome; Fragile X-Associated Tremor Ataxia Syndrome; Fxtas

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Dyskinesias: 7933
    - Tremor: 7754
      - Fragile X Tremor Ataxia Syndrome: 321
    - Ataxia: 6487
      - Fragile X Tremor Ataxia Syndrome: 321
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - X-Linked Mental Retardation: 273
        Fragile X Syndrome: 1696
        Fragile X Tremor Ataxia Syndrome: 321
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Dyskinesias: 7933
      - Tremor: 7754
        Fragile X Tremor Ataxia Syndrome: 321
      - Ataxia: 6487
        Fragile X Tremor Ataxia Syndrome: 321
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Chromosome Disorders: 140
    - Sex Chromosome Disorders: 5
      - Fragile X Syndrome: 1696
        Fragile X Tremor Ataxia Syndrome: 321
- Inborn Genetic Diseases: 12342
  - Chromosome Disorders: 140
    - Sex Chromosome Disorders: 5
      - Fragile X Syndrome: 1696
        Fragile X Tremor Ataxia Syndrome: 321
  - Nervous System Heredodegenerative Disorders: 62
    - X-Linked Mental Retardation: 273
      - Fragile X Syndrome: 1696
        Fragile X Tremor Ataxia Syndrome: 321
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 273
      - Fragile X Syndrome: 1696
        Fragile X Tremor Ataxia Syndrome: 321

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Disease

Drug/Important Bio-Agent (IBA)