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.
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.
As of 2004, there is no cure for ataxia telangiectasia, thus specific therapy is not available, and treatment is largely supportive.
Any family touched by ataxia telangiectasia is forever affected.
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.
The Official Parent's Sourcebook on Ataxia Telangiectasia: A Revised and Updated Directory for the Internet Age.
Ataxia Telangiectasia (A-T) Children's Project. 668 South Military Trail, Deerfield Beach, FL 33442-3023.
Ataxia Telangiectasia (A-T) Medical Research Foundation. 5241 Round Meadow Road, Hidden Hills, CA 91302.
"Questions and Answers: Ataxia Telangiectasia."
Hereditary hemorrhagic telangiectasia is a condition characterized by abnormal blood vessels which are delicate and prone to bleeding.
Hereditary hemorrhagic telangiectasia is also known as Osler-Weber-Rendu disease.
The term telangiectasia refers to a spot formed, usually on the skin, by a dilated capillary or terminal artery.
Telangiectasia is an arterial-venous malformation (AVM) composed of small blood vessels.
In hereditary hemorrhagic telangiectasia these spots occur because the blood vessel is fragile and bleeds easily.
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.
Hereditary hemorrhagic telangiectasia, an autosomal dominant disorder, occurs in one in 50,000 people.
There is no specific treatment for hereditary hemorrhagic telangiectasia.
Because it is an inherited disorder, hereditary hemorrhagic telangiectasia cannot be prevented.
Parents should be aware that frequent nosebleeds are a common sign of hereditary hemorrhagic telangiectasia.
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