Ataxia-telangiectasia

Also known as: A-T; Louis-Bar syndrome

Autosomal recessive progressive ataxia with telangiectasia and immunodeficiency.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders (ataxias); Immunology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, onset in early childhood
Gene(s) involved: ATM

Etiology & mechanism

Loss of ATM kinase impairs DNA damage response.

Gene(s) involved (1)

ATM

Symptoms & signs (7)

elevated afpimmunodeficiencymalignancyoculomotor apraxiaprogressive ataxiasinopulmonary infectionstelangiectasia

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