Ataxia telangiectasia

What is ataxia telangiectasia?

Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.

Last updated on 05-01-20

Patient Registry

Global A-T Family Data Platform

The goal of the Global A-T Family Data Platform is to connect patient health, genomic, and potentially other types of data to scientists and researchers who are interested in advancing the understanding, diagnosis and treatment of ataxia telangiectasia.

Last updated on 04-27-20

Name: National Ataxia Foundation 600 Highway 169 South Suite 1725
Minneapolis, MN, 55426, United States
Phone: +1-763-553-0020 Fax : +1-763-553-0167 Email: Url:
Name: euro-ATAXIA (European Federation of Hereditary Ataxias) Url:
Name: A-T Children's Project 5300 W. Hillsboro Blvd Suite 105
Coconut Creek, FL, 33073, United States
Phone: 800-5-HELP-AT (800-543-5728); 954-481-6611 Fax : 954-725-1153 Email: Url:
Name: Global A-T Family Data Platform

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