Serious Symptoms Of Ataxia-Telangiectasia

Ataxia-telangiectasia is a neurodegenerative disorder that appears during infancy and childhood years. This condition is known to produce impairments in immune system function, the ability to move, and problems with the skin. Ataxia-telangiectasia is a disorder caused by an inherited genetic mutation from an individual's parents in an autosomal recessive fashion. The affected gene is called the ATM gene and is located on chromosome 11. Only one individual in every 40,000 to 100,000 live births is affected by ataxia-telangiectasia. The diagnosis is made with the use of a physical examination, genetic karyotyping, MRI scans, and blood tests. Treatment for ataxia-telangiectasia focuses on the management of symptoms and the prevention of complications. Antibiotic medications, gamma globulin injections, postural drainage of lungs and bronchial tubes, avoidance of sunlight, vitamin E therapy, Diazepam, genetic counseling, and physical therapy may be part of a patient's treatment plan.