Telangiectasia sentence example
- 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.Advertisement
- 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.
- 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.Advertisement
- 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.Advertisement
- Parents should be aware that frequent nosebleeds are a common sign of hereditary hemorrhagic telangiectasia.
- 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.