immunology allergic disorders
Ataxia Telangiectasia
Diagnosis of Ataxia Telangiectasia
IgA and serum alpha-1 fetoprotein levels Genetic testing The following clinical findings suggest the diagnosis of ataxia-telangiectasia: Cerebellar ataxia (particularly when telangiectasias are present) Low levels of IgA (present in 80% of patients with this disorder) High levels of serum alpha-1 fetoprotein If karyotype analysis is done, chromosome breaks, consistent with a defect in DNA repair, are often identified. Diagnosis of ataxia-telangiectasia is confirmed by identifying mutations on both alleles of the gene for ATM protein. Because carriers of an ataxia-telangiectasia mutation usually remain asymptomatic, testing siblings for a carrier state can help predict their chance of having an affected child. Testing for endocrine abnormalities and cancers is done based on clinical presentation. Family members of known patients should be offered genetic counseling with the option to test for the ataxia-telangiectasia carrier state because carriers may be at increased risk for cancer ( Diagnosis reference )) 1.Rothblum-Oviatt C, Wright J, Lefton-Greif MA, et al: Ataxia telangiectasia: a review.Orphanet J Rare Dis11(1):159, 2016. doi:10.1186/s13023-016-0543-7 