Is ataxia telangiectasia a cancer?
Ataxia-telangiectasia (A-T) is a pleiotropic inherited disease characterized by neurodegeneration, cancer, immunodeficiencies, radiation sensitivity, and genetic instability. Although A-T homozygotes are rare, the A-T gene may play a role in sporadic breast cancer and leukemia.
What is the life expectancy of someone with ataxia telangiectasia?
Ataxia telangiectasia is a rare, multiorgan neurodegenerative disorder with enhanced vulnerability to cancer and infection. Median survival in two large cohorts of patients with this disease, one prospective and one retrospective, is 25 and 19 years, with a wide range.
What gene mutation causes ataxia telangiectasia?
Ataxia telangiectasia is due to mutations of the ATM gene, located on chromosome 11q22-23. [1] A mutation of the ATM gene is responsible for aberrant repairing of the breaks of double-strand DNA.
What causes telangiectasia in ataxia telangiectasia?
Ataxia telangiectasia is caused by mutations in a gene on chromosome 11 known as the ATM gene, which is involved in cell cycle control.
Can ataxia-telangiectasia be cured?
General Treatment of Ataxia-Telangiectasia. There is no cure for any of the problems associated with A-T. Treatment is supportive but should be proactive.
Is ataxia a rare disease?
Ataxia usually develops as a result of damage to a part of the brain that coordinates movement (cerebellum). Ataxia can develop at any age. It is typically progressive, meaning it can get worse with time. It is a rare condition, affecting about 150,000 people in the U.S.
How many people have an ATM mutation?
How common is A-T? 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.
What is Bloom’s syndrome?
Listen to pronunciation. (… SIN-drome) A rare, inherited disorder marked by shorter than average height, a narrow face, a red skin rash that occurs on sun-exposed areas of the body, and an increased risk of cancer.
