Type of disease: Rare Condition or Disease
Ataxia telangiectasia (A-T) is an inherited childhood disorder that causes degeneration in the part of the brain that controls motor movements and speech. The condition is characterized by neurological signs, telangiectasias, susceptibility to infections and an increased risk of cancer. Mutations in the ATM gene cause ataxia-telangiectasia. The condition is inherited in an autosomal recessive pattern. There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.