Living with Ataxia-telangiectasia syndrome
A rare inherited condition that affects the nervous system and immune system, causing worsening coordination problems from early childhood.
Understanding Ataxia-telangiectasia syndrome
Coordination problems (ataxia) usually begin before age 5 and often lead to the need for a wheelchair by the teen years. People also have slurred speech, trouble moving the eyes side to side, and small clusters of enlarged blood vessels in the eyes and skin. The immune system is often weakened, with chronic lung infections. People have a higher risk of cancers of the blood and immune system, and are very sensitive to radiation, including medical x-rays. GARD says there is no cure, but treatments such as physical and speech therapy and immune and nutrition support may help.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Slurred speech
- Eye movement problems
- Weakened immune system
- Delayed puberty
- Small clusters of enlarged blood vessels (telangiectasia)
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 allergy and immune system specialists, brain and nervous system specialists, cancer specialists and eye disease 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
A-T Children's Project, National Ataxia Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: A-T Children's Project, National Ataxia Foundation, Epilepsy 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 A-T Children's Project and other patient organizations
- 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: at; at, complementation group c; ataxia - telangiectasia; ataxia telangiectasia; ataxia telangiectasia (a-t); ataxia telangiectasia syndrome
Patient organizations
- A-T Children's ProjectAtaxia-telangiectasia syndrome · United States
- Jeffrey Modell FoundationAtaxia-telangiectasia syndrome · United States
- National Ataxia FoundationAtaxia · United States
- Epilepsy FoundationEpilepsy · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ataxia-telangiectasia syndrome.
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