What is Ataxia Telangiectasia?
What is Ataxia Telangiectasia?
- Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
- Ataxia Telangiectasia: Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage.
Source - Diseases Database
Ataxia Telangiectasia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Ataxia Telangiectasia, or a subtype of Ataxia Telangiectasia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Ataxia Telangiectasia as a "rare disease".
Source - Orphanet
Ataxia Telangiectasia: Introduction
Types of Ataxia Telangiectasia:
Broader types of Ataxia Telangiectasia:
How many people get Ataxia Telangiectasia?
Prevalance of Ataxia Telangiectasia: 1 per 40,000 - 100,000 people worldwide suffer from ataxia-telangiectasia, Genetics Home Reference website
Prevalance Rate of Ataxia Telangiectasia: approx 1 in 40,000 or 0.00% or 6,800 people in USA [about data]
Who gets Ataxia Telangiectasia?
Patient Profile for Ataxia Telangiectasia: Symptoms usually noticable before age 10.
How serious is Ataxia Telangiectasia?
Prognosis of Ataxia Telangiectasia: Poor. Life-shortening. Neurodegenerative. Often death in teens or 20's.
Complications of Ataxia Telangiectasia:
see complications of Ataxia Telangiectasia
Prognosis of Ataxia Telangiectasia:
The
prognosis for individuals with A-T is poor. Those with the disease usually
die in their teens or early 20s.
(Source: excerpt from NINDS Ataxia Telangiectasia Information Page: NINDS)
What causes Ataxia Telangiectasia?
Causes of Ataxia Telangiectasia: see causes of Ataxia Telangiectasia
Risk factors for Ataxia Telangiectasia:
see
risk factors for Ataxia Telangiectasia
What are the symptoms of Ataxia Telangiectasia?
Symptoms of Ataxia Telangiectasia:
see symptoms of Ataxia Telangiectasia
Complications of Ataxia Telangiectasia:
see complications of Ataxia Telangiectasia
Can anyone else get Ataxia Telangiectasia?
Inheritance:
see inheritance of Ataxia Telangiectasia
Ataxia Telangiectasia: Testing
Diagnostic testing: see tests for Ataxia Telangiectasia.
Misdiagnosis: see misdiagnosis and Ataxia Telangiectasia.
How is it treated?
Treatments for Ataxia Telangiectasia:
see treatments for Ataxia Telangiectasia
Prevention of Ataxia Telangiectasia:
see prevention of Ataxia Telangiectasia
Research for Ataxia Telangiectasia:
see research for Ataxia Telangiectasia
Organs Affected by Ataxia Telangiectasia:
Organs and body systems related to Ataxia Telangiectasia include:
Name and Aliases of Ataxia Telangiectasia
Main name of condition: Ataxia Telangiectasia
Other names or spellings for Ataxia Telangiectasia:
AT, Louis Bar syndrome
Louis-Bar syndrome
Source - Diseases Database
AT, Louis Bar syndrome, Louis Bar syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
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» Next page: Online Medical Textbooks for Ataxia Telangiectasia
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