A-T support groups have been organized by all major A-T organizations, such as the Ataxia Telangiectasia Children's Project, the National Ataxia Foundation (NAF), and the Ataxia Telangiectasia Medical Research Foundation.
Ataxia telangiectasia (A-T), also called Louis-Bar syndrome or cerebello-oculocutaneous telangiectasia, is a rare, inherited disease that attacks the neurological and immune systems of children.
Ataxia means poor coordination, and the telangiectasia are tiny, red spider blood vessels which develop in A-T patients, especially on the whites of the eyes and on the surface of the ears.
Unlike hemophilia, where bleeding is caused by an ineffective clotting mechanism in the blood, bleeding in hereditary hemorrhagic telangiectasia is caused by fragile blood vessels.
Variations that cause disease are called mutations and A-T results from a defective gene, the ATM gene (for ataxia telangiectasia, mutated), first identified in 1995.
Establishing a diagnosis for ataxia telangiectasia is most difficult in very young children, primarily because the full-blown syndrome is not yet apparent.
Hereditary hemorrhagic telangiectasia is a condition characterized by abnormal blood vessels which are delicate and prone to bleeding.
As of 2004, there is no cure for ataxia telangiectasia, thus specific therapy is not available, and treatment is largely supportive.
In hereditary hemorrhagic telangiectasia these spots occur because the blood vessel is fragile and bleeds easily.
The term telangiectasia refers to a spot formed, usually on the skin, by a dilated capillary or terminal artery.