Definition
Ataxia-telangiectasia is a rare autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency and cancer predisposition.
Symptoms
- Progressive ataxia
- Telangiectasias in the eyes and skin
- Immunodeficiency
- Increased risk of cancer
Reasons
Mutation in the ATM gene.
Diagnosis
Clinical findings, genetic testing.
Treatment
Symptomatic treatment, immunoglobulin replacement.
Which Polyclinic Should You Apply To?
Neurology Polyclinic
What to Do in an Emergency?
In case of severe infection, emergency services should be consulted.
This page is for general information purposes only.