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How is ataxia-telangiectasia diagnosed?
Diagnosis relies on recognizing the hallmarks of A-T: progressive ataxia and telangiectasia. However, this may be difficult as ataxia symptoms do appear prior to telangiectasia symptoms by several years
What is ataxia-telangiectasia?
Ataxia-telangiectasia (A-T) is a rare, genetic neurological disorder that progressively affects various systems in the body.
What Genetic disorder is Ataxia-telangiectasia?
It's a rare neurological disorder.
Where does the name ataxia-telangiectasia come from?
The name is a combination of two recognized abnormalities: ataxia (lack of muscle control) and telangiectasia (abnormal dilatation of capillary vessels that often result in tumors and red skin lesions ).
What are the demographics of ataxia-telangiectasia?
Both males and females are equally affected by A-T.
What is a common cause of death for children with ataxia-telangiectasia?
The combination of a weakened immune system and progressive ataxia can ultimately lead to pneumonia as a cause of death.
What is A-T disorder?
Ataxia telangiectasia disorder (also referred to as Louis-Bar syndrome) is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.
What has the author Sarah V Butterworth written?
Sarah V. Butterworth has written: 'Studies on ataxia telangiectasia lymphocytes'
How often does ataxia-telangiectasia occur in the population?
it occurs in every population world wide, with an estimated frequency of between 1/40,000 and 1/100,000 live births. But it is believed that many A-T cases, particularly those who die at a young age, are never properly diagnosed
How is ataxia-telangiectasia treated?
Physical therapy and speech therapy can help the patient adjust to ataxia. Injections of gamma globulin, or extracts of human blood that contain antibodies, are used to strengthen the weakened immune system
What happens to children with ataxia-telangiectasia?
Children with A-T become unable to feed or dress themselves without assistance. Because of the worsening ataxia, children with A-T lose their ability to write, and speech also becomes slowed and slurred.
What is the cause of A-T?
Ataxia-telangiectasia is called a recessive genetic disorder because parents do not exhibit symptoms; however, each parent carries a recessive (unexpressed) gene that may cause A-T in offspring.
