Ataxia-telangiectasia (A-T) is an example of a rare, inherited, neurodegenerative disorder that primarily affects the nervous system and immune system. It is caused by mutations in the ATM gene, which is responsible for producing a protein that helps repair damaged DNA.
The disorder is characterized by progressive physical and neurological problems, affecting the coordination and balance of the body. It is usually diagnosed in childhood and can result in physical disability, with some individuals becoming wheelchair-bound as they age. Neurological symptoms can include difficulty coordinating movement, learning difficulties, and seizures. Patients can also experience recurrent infections due to a weakened immune system, as well as an increased risk of developing certain cancers.
Due to the progressive nature of the condition, treatment focuses on managing symptoms and preventing further progression. Treatment may include physical therapy, medications to reduce seizures and infections, and special diets. In some cases, gene therapy may be an option.
Ataxia-telangiectasia is a devastating disorder that affects many aspects of an individual’s life. Unfortunately, there is no cure, but with early diagnosis and treatment, individuals can manage their symptoms and improve their quality of life.