Living with Ataxia - telangiectasia variant
A rare genetic condition similar to ataxia-telangiectasia, but starting later in life and progressing more slowly.
Understanding Ataxia - telangiectasia variant
It usually starts with movement symptoms such as resting tremor, writhing movements (choreoathetosis), and dystonia (involuntary muscle contractions). Mild ataxia may follow, though walking is usually preserved. Telangiectasia (small clusters of enlarged blood vessels) and immune problems may be absent, but cancer risk, unclear speech, and nerve damage are common.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Resting tremor
- Writhing movements (choreoathetosis)
- Involuntary muscle contractions (dystonia)
- Mild balance and coordination problems
- Unclear speech (dysarthria)
- Nerve damage in the limbs (peripheral neuropathy)
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 ATM 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
Dystonia Medical Research 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: Dystonia Medical Research 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 Dystonia Medical Research 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
GARD says changes in the ATM gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ataxia telangiectasia variant; ataxia-telangiectasia variant; v-at; v-at - ataxia telangiectasia variant
Patient organizations
- Dystonia Medical Research FoundationDystonia · 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 Ataxia - telangiectasia variant.
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