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Ataxia-Telangiectasia (Pediatric)

What is Ataxia-Telangiectasia?

Ataxia-Telangiectasia (A-T) is a rare, inherited disease that causes severe disability. It presents with an unsteady, wobbly gait (ataxia), dilated, corkscrew-shaped blood vessels (telangiectasia) on the whites of the eyes and on sun-exposed areas of skin, especially with age.

Patients experience several immune defects, including of their B and T cells and a greater risk of developing cancer. Additionally, areas in the cerebellum, a part of the brain that controls movement and coordination, are impaired.

What are the symptoms of Ataxia-Telangiectasia?

Symptoms are most often first noticed in early childhood when children begin to walk. Children with A-T start walking at a normal age, but they wobble or sway when walking, standing still or sitting.

When the children become school age, they become unable to move their eyes in a natural manner. Their speech may become slurred or distorted speech, and swallowing problems often present themselves.

Many experience an increased number of respiratory tract infections. The progression of every child's illness with A-T varies so it may be some years before A-T is properly diagnosed. Most children with A-T do not display neurological issues for the first 4–5 years of life, but begin to show increasing problems in early school years.

What are the treatments for Ataxia-Telangiectasia?

Currently, there is no treatment to reverse or slow the progression of neurological problems.

To diagnose the disorder, in addition the the physical exam, the immunologist likely will try to determine whether there is an abnormality in a certain blood test called the alpha fetoprotein and of the A-T gene.

After determining that your child has Ataxia-Telangiectasia, your immunologist will assess how the disease is modifying the normal function of the immune system. Therapy is based on responding to the various ways depending on the patient the disease interferes with the immune system.