Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome) is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A-T affects many parts of the body: Symptoms most often first appear in e...
Found on
http://en.wikipedia.org/wiki/Ataxia_telangiectasia
(from the article `nervous system disease`) Ataxia-telangiectasia (Louis-Bar syndrome) results in cerebellar incoordination and choreic movements, overgrowth of blood vessels on the conjunctiva ...
Found on
http://www.britannica.com/eb/a-z/a/118
A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer.
Found on
http://www.cancer.gov/dictionary?expand=A
<neurology, oncology> An intriguing autosomal recessive disorder in which a single defective gene produces myriad and protean effects, presents with cerebellar ataxia, telangiectasias in the eyes and skin, immune deficiency and autoimmune phenomena, propensity for lymphoid and other malignancies, excessive sensitivity to ionising radiation, i...
Found on
http://www.encyclo.co.uk/local/20973
a severe, autosomal recessive, progressive ataxia, associated with telangiectasias (dilation of small blood vessels) in the skin and eyes; immunodeficiency with frequent infections of the respiratory tract from sinuses to lungs; and abnormal eye movements. Called also Louis-Bar syndrome.
Found on
http://www.encyclo.co.uk/local/21001
Louis Bar syndrome; a hereditary autosomal recessive disease in humans characterized by a high frequency of spontaneous chromosomal aberrations, neurological deterioration and susceptibility to various cancers. Ataxia: imbalance of muscle control; telangectasia: dilated capillary vessels. In part an immune deficiency disease and in part one of DNA repair; it is believed to be due to hypersensitivity to background ionizing radiation.
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Found on
http://www.encyclo.co.uk/visitor-contributions.php
Type: Term Definitions: 1. an autosomal recessive multisystem disorder consisting of ataxia, ocular apraxia, hypotonia, proprioceptive sensory loss, areflexia, and choreoathetosis; onset typically in early childhood; systemic features include increased susceptibility to malignancies, conjunctival and cutaneous telangiectasia, and recurrent pulmonar...
Found on
http://www.medilexicon.com/medicaldictionary.php?t=8214
Type: Term See: ataxia telangiectasia
Found on
http://www.medilexicon.com/medicaldictionary.php?t=8226
Ataxia-telangiectasia: A progressive neurodegenerative genetic disease characterized by cerebellar ataxia (incoordination and lack of balance), ocular telangiectasia ('red eyes' due to widening of small blood vessels in the conjunctiva), immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. Ataxia-telangiectasia (A-...
Found on
http://www.medterms.com/script/main/art.asp?articlekey=2377
Louis-Bar syndrome
Found on
http://www.skincareguide.ca/glossary/a/ataxia_telangiectasia.html
No exact match found.
