What is Ataxia Telangiectasia
Ataxia Telangiectasia is a degenerative hereditary neurological disease which affects several systems of the body. It causes a degeneration of the cerebellum associated with dilations characteristic of certain small vessels (telangiectasia).
Symptoms
It first appears in small children and brings a progressive handicap. The child is normal at birth. The first signs of the disease appear during the second year of life.
A-T causes a loss of balance, elocution difficulty, loss of muscular control (confines the patient to a wheelchair), nystagmus (difficulty in controlling the movement of the eye), repeated respiratory infections and progressive neurological damaging, accelerated cutaneous-mucous aging and frequency of certain cancers.
A-T patients are more susceptible to have cancer of the blood. Leukemia and cancer of the lymph are the most common types of cancer. But there is an extreme sensitivity to radiation, therefore the patients do not tolerate it.
Transmission
It is a recessive autosomal disease. It affects both sexes and both parents must be carriers of the faulty gene. There is a 25% chance of having the disease, a 50% chance of being a carrier and a 25% chance of being neither a carrier nor having ataxia Telangiectasia.
Treatments
Much research on A-T is being done.
In 2004, there was an international conference held at the University of Birmingham. Web site: www.atsociety.org.uk
Neurologic, cancer, pulmonary and immunodeficiency follow-ups are recommended. Physiotherapy can be done in order to limit functional losses and to prevent certain complications.
So far, there are no cures. However, injections of globulin will help the immune system.
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