Living with Ataxia-telangiectasia-like disorder 1
A rare genetic condition with slowly worsening balance and coordination problems and extra sensitivity to radiation.
Understanding Ataxia-telangiectasia-like disorder 1
It causes ataxia (poor balance and coordination), trouble starting eye movements (oculomotor apraxia), and other cerebellar problems. People have more chromosome changes than usual and are very sensitive to ionizing radiation. Unlike ataxia-telangiectasia, it does not cause telangiectasia (small clusters of enlarged blood vessels). It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Trouble starting eye movements (oculomotor apraxia)
- Unclear speech (dysarthria)
- Involuntary movements (chorea, dystonia)
- Tremor when reaching
- Low muscle tone
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, cancer specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in MRE11 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); Cancer specialists (oncologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 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 MRE11 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-like disorder caused by mutation in mre11; ataxia-telangiectasia-like disorder caused by mutation in mre11; atld; atld1; mre11 ataxia - telangiectasia-like disorder; mre11 ataxia-telangiectasia-like disorder
Patient organizations
- National Ataxia FoundationAtaxia-telangiectasia-like disorder 1 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ataxia-telangiectasia-like disorder 1.
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