Ataxia-telangiectasia (A-T) is a rare, inherited, progressive, neurodegenerative disorder that affects a variety of systems in the body, including the nervous system, immune system, and blood system. It is caused by mutations in the ATM gene and is inherited in an autosomal recessive manner.
In order for an individual to be affected by A-T, they must have two mutated copies of the ATM gene, one inherited from each parent. When both parents are carriers of the A-T gene, there is a 25% chance with each pregnancy for the child to be affected. A-T is not an inherited condition in the traditional sense, as it is caused by new mutations in the ATM gene and is not passed down through families.
Symptoms of A-T include ataxia (poor coordination), telangiectasias (dilated capillaries of the eye), immunodeficiency, and increased risk for cancer. A-T is also associated with increased susceptibility to infections, slowed growth, and premature aging.
It is important to note that A-T is a very rare condition, with an estimated prevalence of 1 in 40,000 to 1 in 100,000 individuals. The majority of cases are diagnosed in children, but some adults can also develop symptoms.
A-T is an incurable condition, but there are treatments available to help manage its symptoms. Treatment may include physical therapy to improve coordination and balance, medications to improve immune system function, and regular cancer screenings to detect any potential cancerous growths.
While A-T is an inherited condition, it is not a hereditary disorder. As such, it is important to remember that no individual or family is responsible for its occurrence. With early diagnosis and proper treatment, those affected by A-T can lead long, healthy lives.