Generally the symptoms of AT appear during childhood or infanthood. Ataxia telangiectasia is a genetic neurodegenerative disorder.
Table of contents ☰
- What is the A-T syndrome?
- What is the ataxia telangiectasia?
- Is ataxia telangiectasia a cancer?
- Can people with ataxia telangiectasia have children?
- What are the symptoms of Louis Bar syndrome?
- How long can you live with ataxia telangiectasia?
- How is Werner syndrome treated?
- What is the cause of ataxia-telangiectasia?
- What happens in ataxia-telangiectasia?
- Is ataxia a cancer?
- How does ataxia-telangiectasia cause cancer?
- Why are people with ataxia-telangiectasia A-T increased risk for developing cancer?
- How is ataxia-telangiectasia passed down?
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What is the A-T syndrome?
The ataxia-telangiectasia disorder affects the nervous system, the immune system, among other systems of the body. In this condition, movement coordination (ataxia) gradually decreases from early childhood to the teenage years, usually before the age of seven.
What is the ataxia telangiectasia?
This hereditary condition is characterized by progressive neurologic problems, which can make it harder for one to walk and lead to cancer risk. Childhood is the most common time for the onset of A-T.
Is ataxia telangiectasia a cancer?
The Ataxia-Telangiectasia (A-T) disorder is a neurodegenerative disease accompanied by cancer, immune deficiencies, and sensitivity to radiation. There are very few homozygous A-T cases, but the A-T gene may play a role in sporadic cancers such as leukemia and breast cancer.
Can people with ataxia telangiectasia have children?
If one of their children has ataxia-telangiectasia, then there is a 25% (1 in 4) chance that they will have the same condition in the future. An ATM mutation has a 50% (1 in 2) chance of passing down to the next generation. Children who carry the disease are carriers.
What are the symptoms of Louis Bar syndrome?
Between 1 and 2 years of age, babies start acting weird with abnormal head movements and loss of balance, then stop speaking normally and start moving abnormally. It is possible for children as young as 9-10 to show poor coordination and trembling of the extremities, which worsens with age. There are a great many cases of choreoathetosis.
How long can you live with ataxia telangiectasia?
There is no cure for ataxia telangiectasia, but many of the ailments associated with the condition can be prevented. A significant proportion of patients with this disease survive until 25 and 19 years, respectively, based on two large prospective and retrospective cohorts.
How is Werner syndrome treated?
Some cancer treatments, such as surgery, chemotherapy, radiation therapy, and others, may depend on such factors. Individuals and families affected by Werner syndrome may benefit from genetic counseling.
What is the cause of ataxia-telangiectasia?
The cells that generate blood vessels in Ataxia telangiectasia are controlled by a gene on chromosome 11, called the ATM gene.
What happens in ataxia-telangiectasia?
Basically, it is characterized by progressively impaired coordination of voluntary movements (ataxia), reddish lesions on the skin and mucous membranes because blood vessels get permanently enlarged (telangiectasia), as well as impaired immune system function. In other words, cellular and humoral.
Is ataxia a cancer?
The most common causes of these rare, degenerative diseases are related to your immune system's response to a cancerous tumor (neoplasm), which most commonly occurs after cancer of the lung, ovary, breast, or lymph. There is no guarantee that an individual who is suffering from ataxia will also develop cancer.
How does ataxia-telangiectasia cause cancer?
As a result of this loss of brain cells, ataxia-telangiectasia can cause some movement problems. In addition to making cells potentially incapable of responding properly to DNA damage, ATM gene mutations can set up a breeding ground for cancerous tumors as breaks in DNA strands accumulate.
Why are people with ataxia-telangiectasia A-T increased risk for developing cancer?
In those with two mutated ATM genes, cells are unable to repair DNA damage as well as those who are not affected by AT. It is through instability, sometimes death or growth, that the cells form tumors. Ataxia-telangiectasia increases the risk of some types of cancer, thus explaining why some people with the condition develop the disease.
How is ataxia-telangiectasia passed down?
During ataxia telangiectasia, the genes are passed down from parent to child via autosomal recessive inheritance. Genes are responsible for the development of diseases involving two copies of the same gene, given to each parent. A recessive disorder occurs when an individual inherits the same abnormal gene from both parents to manifest a particular trait.