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Start free with EleplanFragile X-associated tremor/ataxia syndrome
ORPHA:93256Malformation syndrome
Also called FXTAS syndrome
What it is
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
Key facts
- Prevalence
- 1-9 / 100 000 (United States)
- Age of onset
- Adult
- Inheritance
- X-linked dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
10Common30–79%
18- Abnormal autonomic nervous system physiology
- Agitation
- Anxiety
- Compulsive behaviors
- Depression
- Diffuse cerebellar atrophy
- Dysesthesia
- Hyporeflexia
- Impotence
- Irritability
- Lower limb muscle weakness
- Muscle weakness
- Peripheral neuropathy
- Pollakisuria
- Postural instability
- Rigidity
- Ubiquitin-positive cerebral inclusion bodies
- Urinary bladder sphincter dysfunction
Sometimes5–29%
9- Abnormal brainstem morphology
- Bowel incontinence
- Bradykinesia
- Dysphagia
- Hypertension
- Hypotension
- Hypothyroidism
- Myalgia
and 1 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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