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Ataxia Telangiectasia (AT)
Tuesday, 17 June 2003
Sunday, 28 August 2005


Ataxia Telangiectasia (AT) is a rare progressive neurological disease with various complications affecting the neurologic, hepatic (liver), and endocrinologic (hormones) systems. It is characterized by ataxia (unsteady gait) , telangiectasias (dilated blood vessels of the skin and eyes), immunodeficiency involving some of the cells of the immune system like B and T cells, and a predisposition to certain cancers like leukemia and lymphoma. Other features of AT are extreme sensitivity to radiation, diabetes mellitus, slowed growth, difficulty swallowing, and premature graying of the hair.


AT is an autosomal recessive disease, meaning affected children must inherit one damaged gene from each parent. The incidence of AT is 1 in 20,00 to 100,000 births and 1-2% of Caucasian adults carry the gene. Recently, researchers have discovered the gene responsible for AT, referred to as ATM. The gene is involved in repairing damaged DNA, as well as regulating cell growth, which explains why individuals with AT have the many and varied symptoms listed below.

Signs and Symptoms

The first symptoms of AT usually present in children when they are about 2 or 3 years old, and consist of a clumsy, unsteady gait. At this point the diagnosis of AT is difficult to make, and children may be diagnosed incorrectly with cerebral palsy. By the time children are 5 years old, they begin to develop slurred speech, and by 10 years of age children often require a wheelchair, because excessive falling and slow reflexes can lead to significant injury. Other symptoms include difficulty in initiating eye movements (oculomotor apraxia) which may be seen early in the course of the disease, poor handwriting and reading, and dependency for bathing and personal hygiene. Telangiectasias usually appear after the unsteady gait is noticed, and usually look like tiny red spider veins located around the corner of the eyes, ears and cheeks. AT also results in an increased susceptibility to infections especially in the lungs and sinuses. Patients with AT may also have defects in T and B cell production. The reduced number of T cells is commonly associated with a small or immature thymus gland that produces T cells. Therefore, these decreases may result in an increased susceptibility to infections. Finally, about 20-30% of individuals with AT develop cancer at some point. Most of these are lymphomas or leukemias.


The common clinical findings described above plus laboratory tests lead to a diagnosis of AT. Telangiectasias with the neurologic symptoms allow a diagnosis to be made, but telangiectasias alone are common and do not confirm AT. The most difficult time to make the diagnosis is when the first neurological symptoms appear. During this time recurrent infections and immunologic findings will also suggest AT. A helpful lab test used to diagnosis AT is the measurement of the fetal proteins such as alpha fetoprotein. Alpha fetoprotein is elevated in 95% of AT patients. Although fetal proteins are primarily produced during pregnancy, they may persist after birth and be used as a valuable diagnostic tool. Therefore an elevated alpha fetoprotein with the associated symptoms strongly suggests diagnosis of AT. In addition, low levels of immunoglobulins also support a suspected diagnosis of AT. There are also other more specific tests for AT, such as evaluating how cells from the patient respond to doses of radiation, measurements of the protein involved with AT, as well as testing for the AT gene.


Although there is no cure for AT, there are a variety of treatments that are supportive. Patients are encouraged to participate in many activities such as school, occupational, speech, and physical therapy. Physical and occupational therapy help to maintain flexibility and mobility and prevent stiffness. For those patients with weakened immune systems, gamma-globulin injections may boost the immune system. In those patients where swallowing function is compromised, thin liquids are eliminated from the diet in order to prevent them from entering the trachea and lungs (aspiration). Since AT patients are at risk for cancers, it is important that they be monitored regularly to detect them early on. If patients do develop cancer, the treatment must be modified from the usual regime, because AT patients are sensitive to the radiation often used to treat these cancers.


AT is progressive which means that it may get worse as time passes. It is important to know that the course of AT is variable, and predicting what will happen in a child’s life is very difficult. Individuals with AT have neurological difficulties over time, have common infections of the lungs, and require a wheelchair. Most individuals live beyond 25 years of age and some have survived in their 40s or 50s. Intelligence of children with AT is not compromised and may even show above normal intelligence, and many have attended college.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


The Ataxia Telangiectasia (A-T) Children s Project
This website has a lot of information about AT and the current research findings. There is also a handbook for caregivers and family members of those affected by AT, books, poems, newsletters, and a note to physicians who are treating children with AT. This is the first place to go if you want a starting point for searches concerning AT.

The Ataxia Telangiectasia (A-T)Project
This website has information about AT, research, articles, books, links, and events all dealing with AT. Newsletters and published papers are available to view for the public.

Ataxia Telangiectasia Society
A well organized website with educational information and links to support groups and current research.

Google Search for Ataxia Telangiectasia (AT)

References and Sources Nelson Textbook of Pediatrics, 16th edition