Learn About A-T “ay-TACK-see-uh teh-LAN-jick-TAY-sha”

Ataxia-telangiectasia (A-T) is a rare genetic disease that causes loss of muscle control and balance, cancer, lung disease and immune system problems in children and young adults.

A-T Basics Causes:

A-T is a genetic disease. When someone has A-T, it means they have specific changes or variants in their DNA. These variants prevent the body from making a crucial protein called ATM, which is essential for the body's normal functions.

Symptoms:

Ataxia: The onset of this ataxia marks the beginning of progressive degeneration of a part of the brain, known as the cerebellum, that gradually leads to a general lack of muscle control, and eventually confines the patient to a wheelchair.
Telangiectasia: tiny red “spider” veins which appear in the corners of the eyes or on the surface of the ears and cheeks
Immune System Problems: About 70% of children with A-T have immunodeficiency that usually brings recurrent respiratory infections.
Predisposition to Cancer: Children with A-T tend to develop malignancies of the blood system almost 1,000 times more frequently than the general population.
And many others: A-T is multi-system disease that presents differently in each individual. There is high variability between people with A-T and even siblings with A-T.

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Diagnosis:

To diagnose A-T, doctors typically use a combination of clinical evaluation and genetic testing. Genetic testing in particular is crucial for a definitive diagnosis of A-T. Genetic testing can also provide information about the specific genetic variants involved.

The first signs of the disease usually appear early in childhood (the toddler stage), when children begin to walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still or sitting. In late pre-school and early school age, children with A-T develop difficulty moving the eyes in a natural manner from one place to the next, and they develop slurred or distorted speech, and swallowing problems.

Treatments:

There is no cure for A-T and there is currently no way to slow the progression of the disease. At this time, treatments are directed only toward partially alleviating some symptoms as they appear.

Because A-T is a rare, “orphan” disease, very little research data is available on pharmaceutical therapies that may aid these children. Physical, occupational and speech therapy are used to help maintain flexibility and gamma-globulin injections help supplement the immune systems of some A-T patients.