Ataxia-telangiectasia (A-T) is a rare, genetic disorder that typically appears in children before the age of five and is characterized by progressive neurological deterioration, immunodeficiency, and an increased risk of certain types of cancer. The average age of diagnosis for A-T is 3-6 years old, although it can be diagnosed as early as infancy or as late as adolescence. A-T is estimated to affect 1 in 40,000-100,000 people worldwide.
Symptoms of Ataxia-Telangiectasia
Ataxia-telangiectasia is characterized by a wide range of symptoms that can vary from person to person. Common symptoms include:
• Cerebellar ataxia: Decreased muscle coordination, difficulty walking, loss of depth perception, difficulty with fine motor tasks
• Telangiectasias: Tiny red spots on the surface of the skin
• Oculomotor apraxia: Impaired eye movements
• Immunodeficiency: Increased risk of infection
• Cancer: Increased risk of certain types of cancer
• Endocrine abnormalities: Growth hormone deficiency, hypogonadism
Treatment of Ataxia-Telangiectasia
Ataxia-telangiectasia is a progressive disorder, but there are treatments available to help manage and improve the quality of life for those affected. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to help manage symptoms and reduce the risk of infection. Additionally, patients may require regular monitoring for signs of cancer.