Ataxia-Telangiectasia (A-T) is a rare, neurodegenerative, inherited disease that affects several organs in the body. It is primarily characterized by progressive cerebellar ataxia, telangiectasias, immune defects, and a predisposition to malignancy. This condition is caused by mutations in the ATM gene, which plays a critical role in cell cycle control, DNA repair, and cellular response to DNA damage. Understanding the symptoms of Ataxia-Telangiectasia is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive ATM Gene Ataxia-Telangiectasia Genetic Test, which is pivotal in diagnosing this condition. The test is priced at 4400 AED. For more information, visit https://dnalabsuae.com/tests/atm-gene-ataxia-telangiectasia-genetic-test/.
Symptoms of Ataxia-Telangiectasia
Ataxia-Telangiectasia manifests through a variety of symptoms, affecting multiple systems within the body. Early recognition of these symptoms can lead to timely testing and intervention, potentially improving the quality of life for those affected.
Neurological Symptoms
The most prominent symptom of A-T is progressive cerebellar ataxia, which usually appears in early childhood, between the ages of 1 and 4. This leads to poor coordination and slurred speech. As the condition progresses, movements become more uncoordinated, and the individual may require assistance with walking or become wheelchair-bound.
Ocular Symptoms
Telangiectasias, or spider veins, are another hallmark of A-T, particularly appearing in the whites of the eyes. These do not generally impair vision but are key indicators for diagnosing A-T.
Immunodeficiency Symptoms
Individuals with A-T often have compromised immune systems, making them more susceptible to infections, particularly respiratory infections. These recurrent infections can significantly affect the quality of life and may lead to chronic lung disease.
Increased Cancer Risk
Patients with Ataxia-Telangiectasia have an increased risk of developing cancer, especially lymphoid malignancies and leukemia. Regular monitoring for signs of cancer is crucial for individuals with A-T.
Additional Symptoms
Other symptoms may include premature aging, sensitivity to ionizing radiation, and diabetes. Each individual’s symptoms can vary, making personalized medical attention essential.
ATM Gene Ataxia-Telangiectasia Genetic Test
DNA Labs UAE’s ATM Gene Ataxia-Telangiectasia Genetic Test is a targeted test designed to detect mutations in the ATM gene, confirming the diagnosis of A-T. This test is an important step in the management and treatment planning for individuals suspected of having A-T. Priced at 4400 AED, the test is accessible for those seeking answers and peace of mind regarding this condition.
- Early diagnosis through genetic testing can lead to better management of symptoms.
- Understanding the risk of associated malignancies can guide regular health monitoring.
- Genetic counseling provided with the test can help families understand the inheritance pattern and risks for future children.
For more detailed information about the ATM Gene Ataxia-Telangiectasia Genetic Test and to schedule a test, please visit DNA Labs UAE. Early detection and management are key to improving outcomes for individuals with Ataxia-Telangiectasia.
