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What is the cause of ataxia-telangiectasia?
The disorder is caused by changes (mutations) of a gene known as ATM (for “AT mutated”) that has been mapped to the long arm (q) of chromosome 11 (11q22. 3). The ATM gene controls (encodes for) the production of an enzyme that plays a role in regulating cell division following DNA damage.
What is ATM ataxia-telangiectasia?
Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5.
What are the symptoms of ataxia-telangiectasia?
Symptoms include slurred speech, poor balance, lack of muscle control, and tiny red spider veins in the corners of the eyes or on the ears and cheeks. There is no cure. It is managed by treating the symptoms. Treatment may include physical therapy, occupational therapy, and genetic counseling.
What does an ATM gene mutation mean?
If you both have a mutation in the ATM gene, which is rare, there’s a chance your child could be born with a serious condition called ataxia-telangiectasia (uh-TAK-see-uh-teh-LAN-jee-ek-TAY-zhuh), or AT. AT is a rare disorder that affects the nervous system, immune system, and other body systems.
Is telangiectasia a cancer?
People with ataxia-telangiectasia have about a 40% chance of developing cancer. Of those that develop cancer, most will develop leukemia (blood cell cancer) or lymphoma (immune cell cancer). Other types of cancer that may develop include the following: Ovarian cancer.
How rare is the ATM gene?
A-T is rare. It is estimated that A-T affects 1 in 40,000 to 1 in 100,000 people. The chance that a person is a carrier of a single ATM gene mutation is about 1%, or 1 in 100.
Does everyone have the ATM gene?
Everyone has two copies of the ATM gene, which we randomly inherit from each of our parents. Mutations in one copy of the ATM gene can increase the chance for you to develop certain types of cancer in your lifetime.
Is ATM mutation hereditary?
Your close relatives (like your parents, brothers, sisters, children) have a 50/50 random chance of inheriting the ATM mutation that you carry, and other family members (like your aunts, uncles, cousins) may also inherit it. Your relatives can be tested for this same mutation.
What is ataxia telangiectasia (ATM)?
Ataxia telangiectasia, mutated (ATM) is a large protein that has carboxy-terminal similarity to other proteins of the phosphatidylinositol-3-OH-kinase (PI(3)K) family. Two other representative protein kinases—ATM-Rad3 related (ATR) and the catalytic subunit of the DNA-dependent protein kinase (DNAPKcs)—are included for comparison.
Is ataxia–telangiectasia A breast cancer susceptibility allele?
“ATM mutations that cause ataxia–telangiectasia are breast cancer susceptibility alleles”. Nature Genetics. 38 (8): 873–5. doi: 10.1038/ng1837.
Is ataxia-telangiectasia dominant or recessive?
Ataxia-telangiectasia is inherited in an autosomal recessive pattern, which means both copies of the ATM gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Where does telangiectasia occur?
Telangiectasia can also appear on sun-exposed areas of skin, especially the face and ears. They occur in the bladder as a late complication of chemotherapy with cyclophosphamide, have been seen deep inside the brain of older people with A–T, and occasionally arise in the liver and lungs.