What is 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