Name: Ataxia-telangiectasia | Acronym: ATM
Alt. names: A-T | Louis-Bar syndrome

Gene: ATM | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 1995

Last updated on: 2023-02-28 16:41:18 by

OMIM: 208900

Orphanet: 100

MONDO: -

DOID: -

ClinGen:

It is characterized by progressive cerebellar ataxia, dilation of the blood vessels of the conjunctiva and eyeballs (telangiectasia), immunodeficiency (mainly of the humoral immune response), growth retardation, and sexual immaturity. Patients present neurological signs, increased susceptibility to infections, especially pulmonary, and increased risk of cancer, but the severity is variable. The first symptoms are abnormal movements (choreoathetosis), loss of balance, and difficulty speaking, followed by telangiectasias, poor coordination, and progressively worse tremors. In addition, 30% have learning difficulties or moderate intellectual deficiency.

The current treatment is symptomatic, through physiotherapy, speech therapy and the treatment of infections with antibiotics, to avoid pulmonary complications. Beta-blocking drugs are used to reduce tremors and improve fine movements. Due to the susceptibility of patients to X-rays, radiation therapy, and some forms of chemotherapy, should be used with caution. The use of a wheelchair may be necessary from 10-11 years of age.