General Information About Ataxia Telangiectasia
Disease Details and Frequently Asked Questions
It is a severe genetic syndrome characterized by the death of nerves in the cerebellum (balance center), the collapse of the immune system, and the development of extreme sensitivity to radiation, as a result of cells failing to repair DNA damage due to a defective gene (ATM).
The disease is usually noticed when the child starts walking around 1-2 years of age. Compared to their peers, the child walks very unsteadily, wobbles (like a drunk), falls constantly, and has difficulty standing (Ataxia). As the years pass (towards the age of 10), the situation worsens so much that the child completely stops walking and becomes confined to a wheelchair.
The signature (second) finding of the disease generally appears around the ages of 3-5. Thick, red cracked vessels, just like bloodshot eyes or a spider web, form due to the prominence and expansion of capillaries in the white part of the child's eye (Sclera) and the skin of the face/ears. (It is often confused with Conjunctivitis/Pink eye).
A-T patients have a severe deficiency of immune antibodies (IgA, IgE). Therefore, even a simple cold quickly turns into pneumonia, and patients carry the risk of dying from recurrent respiratory infections.
Cancer Danger: Because cells cannot repair DNA breaks, mutations accumulate. In 25-30% of these children, Leukemia or Lymphoma (Blood/Lymph Cancer) develops at a very young age.
VITAL RULE: A-T patients are EXTREMELY SENSITIVE to Ionizing Radiation compared to normal people. Taking even a simple Dental X-ray, Chest X-ray, or CT (Tomography) of the patient can kill that patient's cells or instantly trigger their cancerization. Radiation-free MRI (Magnetic Resonance Imaging) should be preferred only in very urgent situations.
Very high levels of 'Alpha-Fetoprotein (AFP)' in the blood and a lack of immune cells raise suspicion. The definitive diagnosis is made with a Genetic Test (DNA analysis) looking at the ATM gene.
Treatment: There is NO pill or cure that will zero out (stop) the disease. Treatment is supportive. To prevent infections, intravenous Immunoglobulin (IVIG - ready antibody) Serum and prophylactic antibiotics are given once a month. Physiotherapy is applied to keep muscles strong. When cancer develops, very low-dose and specially adjusted chemotherapies are administered (because radiotherapy cannot be given).
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
