What is Ataxia Telangiectasia (AT)?

Ataxia Telangiectasia (AT) is a rare, inherited neurodegenerative disorder affecting the nervous and immune systems. It is characterized by progressive neurological symptoms, immunodeficiency, and a heightened risk of cancer. Symptoms typically emerge in early childhood. Causes AT is caused by mutations in the ATM gene (Ataxia Telangiectasia Mutated), crucial for DNA repair. The disorder follows an autosomal recessive inheritance pattern, requiring two copies of the mutated gene for a child to develop AT. Symptoms Common symptoms include: Ataxia: Loss of coordination and balance, often observed as clumsiness or difficulty walking. Telangiectasia: Small red spots on the eyes and skin, usually appearing in early childhood. Immunodeficiency: Increased susceptibility to infections due to a weakened immune system. Neurological Issues: Speech difficulties, cognitive decline, and challenges with fine motor skills. Cancer Risk: Higher likelihood of developing lymphomas and leukemias. Diagnosis Diagnosing AT involves: Clinical Assessment: A neurological exam to evaluate coordination and balance. Genetic Testing: Identifying mutations in the ATM gene confirms the diagnosis. Immunological Evaluation: Blood tests to assess immune function. Management and Treatment While there is currently no cure for AT, management focuses on alleviating symptoms: Physical Therapy: Helps improve coordination and mobility. Speech Therapy: Addresses communication challenges. Immunoglobulin Replacement Therapy: Supports the immune system in those with deficiencies. Cancer Screening: Regular monitoring for early detection of cancers. Living with AT Support from healthcare providers, family, and community resources is crucial. Connecting with support groups can provide valuable information and emotional support. Research and Future Directions Ongoing research aims to better understand AT and explore potential therapies targeting the ATM pathway. Advances in gene therapy and personalized medicine may offer hope for future treatments. Ataxia Telangiectasia presents unique challenges, but through awareness, research, and community support, we can improve the lives of those affected and work toward finding a cure. (Please note that this video is for informational purposes only and is not intended as medical advice. Always consult a healthcare professional for medical concerns.)