Louis-Bar syndrome DefinitionAtaxia-telangiectasia is a rare childhood disease. It affects the brain and other parts of the body. Ataxia refers to uncoordinated movements, such as walking. Telangiectasias are enlarged blood vessels (capillaries) just below the surface of the skin. Telangiectasias appear as tiny, red, spider-like blood vessels. CausesAtaxia-telangiectasia is inherited. This means it is passed down through families. It is an autosomal recessive trait. Both parents must provide a copy of a nonworking gene for the child to have symptoms of the disorder. The disease results from a variant in the ATM gene. This gene provides instructions for making a protein that helps control the rate at which cells grow and divide. Defects in this gene can lead to abnormal cell death in many sites of the body, including the part of the brain that helps coordinate movement. Boys and girls are equally affected. SymptomsSymptoms include:
Exams and TestsYour health care provider will perform a physical exam. The exam may show signs of the following:
Possible tests include:
TreatmentThere is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific symptoms. Support GroupsMore information and support for people with ataxia-telangiectasia condition and their families can be found at:
Outlook (Prognosis)Early death is common, but life expectancy varies. Because people with this condition are very sensitive to radiation, they should never be given radiation therapy, and no unnecessary x-rays should be done. Possible ComplicationsComplications may include:
When to Contact a Medical ProfessionalContact your provider if your child develops symptoms of this disorder. PreventionCouples with a family history of this condition who are considering pregnancy may consider genetic counseling. Parents of a child with this disorder may have a slight increased risk for cancer. They should have genetic counseling and increased cancer screenings. ReferencesCunningham-Rundles C. Primary immunodeficiency diseases. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 231. Martin KL. Vascular disorders. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 669. National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Ataxia-telangiectasia. rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia. Updated February 2023. Accessed October 17, 2023. Safier RA, Cleves-Bayon C, Gaesser J. Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 16. | |
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Review Date: 9/18/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. | |
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Antibodies
Telangiectasia
