Ataxia Telangiectasia (AT) is a disease that interests many body organs and systems; is inherited according to a recessive autosome modality or from two healthy parents, carrying the disease’s character.
What is Ataxia Telangiectasia and how it occurs?
AT is characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, radiosensibility and predisposition to tumours, both in the affections and in their family. Ataxia Telangiectasia or Louis-Bar Syndrome is a genetic disease with recessive autosomal transmission characterized by: cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, that predispose to the development of recurrent infections and tumours of the immune system. For the first time, the disease was described by Sylaba e Henner in 1926, long before the description of Louis-Bar in 1941, and takes its name from its characteristic signs: the Ataxia, or rather the progressive loss of coordination of movements, and the presence of Telangiectasia, enlargement of small blood vessels.