Living with Fragile X-associated tremor/ataxia syndrome
A late-onset genetic condition causing tremor, poor balance, and memory and thinking problems, usually after age 50.
Understanding Fragile X-associated tremor/ataxia syndrome
It usually begins after age 50 and gets worse with age. It affects males more often and more severely than females. Damage in the cerebellum and brain white matter can be seen on MRI. The main features are a shaking tremor when reaching for something (intention tremor) and balance and coordination problems (ataxia).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Shaking when reaching for objects (intention tremor)
- Poor balance and coordination (ataxia)
- Memory and thinking problems
- Numbness or tingling in the legs
- Bladder or bowel control problems
- Anxiety or depression
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in FMR1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Ataxia Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FMR1 gene cause it. It is X-linked, which means the gene is on the X chromosome.
Also known as: fragile x associated tremor ataxia syndrome; fragile x tremor/ataxia syndrome, x-linked dominant; fxtas syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Fragile X-associated tremor/ataxia syndrome.
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