# What is Ataxia Telangiectasia? Canonical page: https://clinicsjo.com/en/faq/ma-hu-taranuh-tawassu-al-shaeirat-ataxia-telangiectasia Language: en Category: neurology Publisher: ClinicsJo Published: 2026-09-13T08:09:50.692Z Content updated: 2026-09-13T08:09:50.692Z Translation (ar): https://clinicsjo.com/ar/faq/ma-hu-taranuh-tawassu-al-shaeirat-ataxia-telangiectasia Ataxia Telangiectasia, abbreviated as A-T, is a rare genetic disorder that affects multiple body systems, most notably the nervous system and the immune system [\[1\]](). This disease typically manifests in early childhood, before the age of five, and is characterized by a group of symptoms that develop progressively [\[1\]](). ## Symptoms of Ataxia Telangiectasia The main symptoms of Ataxia Telangiectasia include: - **Ataxia:** Difficulty with coordinating movements, which affects balance and walking. Parents may notice delayed walking or an unsteady gait [\[1\]]()[\[2\]](). - **Telangiectasias:** Small red blood vessels that resemble spider veins, appearing under the skin surface, particularly in the eyes, nose, ears, and inside the elbows and knees [\[1\]]()[\[2\]](). - **Speech difficulties:** Affected children may suffer from speech impairments, where their speech becomes slurred or slow [\[1\]](). - **Weakened immune system:** A weakened immune system leads to an increased risk of infections, particularly recurrent and severe lung infections [\[1\]]()[\[2\]](). - **Growth delay:** Delays in physical and sexual development may be observed [\[1\]]()[\[2\]](). - **Involuntary eye movements (nystagmus):** Intermittent involuntary eye movements may appear in later stages of the disease [\[2\]](). ## Causes of Ataxia Telangiectasia Ataxia Telangiectasia is a genetic disease passed down through generations. It is caused by a mutation in a gene known as ATM [\[2\]](). This gene provides instructions for producing a protein that plays an important role in controlling cell growth and division, and repairing damaged DNA. When there is a defect in this gene, it leads to abnormal cell death in various parts of the body, including the part of the brain responsible for coordinating movement [\[2\]](). The disease is inherited in an autosomal recessive pattern, which means the child must inherit a non-functional copy of the gene from both parents to develop the disease [\[2\]](). ## Diagnosis and Genetic Testing Diagnosis of Ataxia Telangiectasia depends on clinical examination and symptom evaluation, as well as laboratory tests [\[2\]](). Genetic testing to detect mutations in the ATM gene is crucial for confirming the diagnosis [\[2\]](). Other tests may include measuring levels of Alpha-fetoprotein and immunoglobulin levels in the blood (IgE, IgA) [\[2\]](). ## Managing the Disease and Support There is currently no cure for Ataxia Telangiectasia, but available treatments aim to improve symptoms and manage complications [\[1\]]()[\[2\]](). These treatments may include injections to strengthen the immune system, physical therapy to improve coordination and movement, speech therapy, as well as high doses of vitamins [\[1\]](). It is very important that patients with Ataxia Telangiectasia avoid unnecessary exposure to radiation, including X-rays and radiotherapy, due to their hypersensitivity to radiation [\[2\]](). This condition may increase the risk of developing cancer, such as leukemia and lymphoma, as well as diabetes [\[1\]]()[\[2\]](). Therefore, regular medical monitoring is advised. Families with a history of Ataxia Telangiectasia may consider genetic counseling before pregnancy [\[2\]](). For additional information and support, you can visit [Ataxia Telangiectasia: Understanding the Disease and Family Support (Arabic)](). ## Medical references - [Ataxia Telangiectasia]() - [Ataxia - telangiectasia]() General health education; not a substitute for individualized clinical assessment. Citation URL: https://clinicsjo.com/en/faq/ma-hu-taranuh-tawassu-al-shaeirat-ataxia-telangiectasia#answer