Ataxia-telangiectasia

A new disease profile is added to our database – Ataxia-telangiectasia, also known as a Louis Bar syndrome. Ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between one and four years of age, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, frequent infections, immunodeficiency, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. The occurrence of the disease has been estimated to be one in 40 000-300 000 live births. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in pediatrics – Dr. Iliana Pacheva, MD.