What is Ataxia Telangiectasia?                    

Ataxia Telangiectasia (A-T) is a rare genetic disorder that mainly affects children. It impacts the nervous system, causing problems with coordination and balance, known as ataxia.

Diagnosing A-T involves observing these symptoms, conducting genetic tests, and assessing immune system function. Early detection is crucial for managing symptoms and providing appropriate care.

Some therapies can help enhance the quality of life for individuals with Ataxia Telangiectasia.

Symptoms of Ataxia Telangiectasia

• Individuals with A-T often experience difficulty with balance and coordination, leading to irregular movements.
• Children may show delayed development of motor skills, such as walking.
• Telangiectasia, tiny red spider-like veins, may appear on the skin or whites of the eyes.
• Speech and eye movements can also be affected.
•  Other symptoms may include slowed growth, sensitivity to radiation, and an increased risk of certain cancers.

Causes of Ataxia Telangiectasia

• Ataxia telangiectasia (AT) is a rare genetic disorder primarily caused by mutations in the ATM (ataxia telangiectasia mutated) gene.
• AT primarily affects the nervous system, causing progressive degeneration of the cerebellum and other brain regions.
• Visible blood vessel dilation (telangiectasia) occurs, particularly in the eyes and skin.
•  AT patients experience immune system deficiencies, leading to increased susceptibility to infections.

Treatment of Ataxia Telangiectasia

Ataxia telangiectasia (A-T) is a rare genetic disorder that affects the nervous system, immune system, and other body systems. Treatments aim to improve the symptoms and make life better.

Physiotherapy and occupational therapy play crucial roles in maintaining mobility and independence. Speech therapy can help with communication difficulties. Since A-T affects the immune system, prompt treatment of infections is essential.

Regular check-ups with a healthcare team, including neurologists and immunologists, are crucial for monitoring the progression of the disease.

Medications may be prescribed to alleviate specific symptoms, such as tremors or muscle stiffness. Consulting a doctor is necessary as they can give the right treatment.

Dr. Navin Tiwari
Consulting Neurologist