Ataxia-telangiectasia (A-T) is an inherited disease which affects a person’s ability to control movement. It also may weaken the immune system. People with A-T are at greatly increased risk for cancer, and the median age of death is around 22.
Shortly after children with A-T learn to walk, they will begin to wobble or stagger. Their motor skills will develop slower than normal and they will have poor balance and slurred speech. They lose the ability to follow objects with their eyes. This inability to control body movement, caused by damage to part of the brain, is called ataxia. By the age of seven or eight, children with the disease often lose the muscle control necessary to write, and most are confined to wheelchairs by the age of ten.
Teenagers and adults with the disease require help with everyday tasks, including dressing, eating, washing, and using the bathroom. Loss of muscle control often leads to drooling. While neurological problems may impair their ability to communicate, people with A-T are usually of average or above-average intelligence.
Another hallmark of the disease is the appearance of tiny red spider-like veins around the corners of the eyes and on the ears and cheeks. This is known as telangiectasia.
Between 60 and 80% of people with A-T have weakened immune systems, leaving them prone to infection, particularly in the lungs. They are also at an increased likelihood of developing cancer at an early age, particularly cancer of the blood (leukemia) and of the immune system (lymphoma). They are hypersensitive to the type of radiation found in X-rays and used in cancer treatment and typically must avoid it.
Other symptoms of the disease may include diabetes, premature graying of the hair, problems with swallowing, and delayed sexual development.
A-T is caused by mutations in a gene involved in the control of cell growth and division, and also in the repair of damaged DNA.
Carriers of A-T do not show symptoms of the disease, but studies have shown that they are at a greater than average risk of developing cancer, particularly breast cancer. Due to this increased risk, it is recommended that women who are carriers have an annual MRI and mammogram to screen for cancer.
A-T affects 1 in every 40,000 to 100,000 births worldwide. It is believed that around 1% of the U.S. population is a carrier of A-T.
There is no cure for A-T, but symptoms of the disease can be addressed. Injections of gamma globulin may be prescribed to help boost the immune system. High-dose vitamins may also be suggested. Antibiotics are typically used for infections. Vaccines for influenza and pneumonia may be recommended, as these diseases can be devastating to people with A-T.
Physical and occupational therapy are recommended to aid in movement and flexibility. Speech therapy may also be useful.
Nearly all people with A-T are wheelchair-bound by the age of 10. Because intelligence remains normal, many people with the disease graduate high school and college. People with A-T have shortened lifespans, with the median age of death around 22 years. A small number of people have survived into their 40s and 50s. The most common causes of death from this disease are cancer, lung infection, or lung failure.
A non-profit promoting research and distributing information on all forms of ataxia, NAF also helps connect people living with the diseases.
2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447
Founded by the parents of children with A-T, the organization aims to raise funds for research on A-T, maintain a patient registry for the disease, and to provide up-to-date clinical information on the disease.
5300 Hillsboro Blvd., Suite 105
Coconut Creek, FL 33073
Phone: (954) 481-6611
Secondary Phone: (800) 543-5728