BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuAtaxia - telangiectasiaLouis-Bar syndromeAtaxia-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. Causes Ataxia-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.Autosomal recessiveAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...ImageRead Article Now Book Mark Article The disease results from a mutation 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 around the body, including the part of the brain that helps coordinate movement.Boys and girls are equally affected. Symptoms Symptoms include:Decreased coordination of movements (ataxia) in late childhood that can include ataxic gait (cerebellar ataxia), jerky gait, unsteadiness AtaxiaUncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. It leads to a jerky, unsteady, to-and-fr...Read Article Now Book Mark Article Decreasing mental development, slows or stops after age 10 to 12 Delayed walking Discoloration of skin areas exposed to sunlight Discoloration of skin (coffee-with-milk-colored spots) Enlarged blood vessels in skin of nose, ears, and inside of the elbow and knee Enlarged blood vessels in the whites of the eyes Jerky or abnormal eye movements (nystagmus) late in the disease NystagmusNystagmus is a term to describe fast, uncontrollable movements of the eyes that may be:Side to side (horizontal nystagmus)Up and down (vertical nysta...ImageRead Article Now Book Mark Article Premature graying of the hair Seizures Sensitivity to radiation, including x-rays Severe respiratory infections that keep coming back (recurring) Exams and Tests The health care provider will perform a physical exam. The exam may show signs of the following:Tonsils, lymph nodes, and spleen below normal size Decreased to absent deep tendon reflexes Delayed or absent physical and sexual development Growth failure Growth failureFailure to thrive refers to children whose current weight or rate of weight gain is much lower than that of other children of similar age and sex....Read Article Now Book Mark Article Mask-like face Multiple skin coloring and texture changes Possible tests include:Alpha fetoprotein Alpha fetoproteinAlpha fetoprotein (AFP) is a protein produced by the liver and yolk sac of a developing baby during pregnancy. AFP levels go down soon after birth. ...ImageRead Article Now Book Mark Article B and T cell screen B and T cell screenB and T cell screen is a laboratory test to determine the amount of T and B cells (lymphocytes) in the blood.Read Article Now Book Mark Article Carcinoembryonic antigen Carcinoembryonic antigenThe carcinoembryonic antigen (CEA) test measures the level of CEA in the blood. CEA is a protein normally found in the tissue of a developing baby i...ImageRead Article Now Book Mark Article Genetic testing to look for mutations in the ATM gene Glucose tolerance test Serum immunoglobulin levels (IgE, IgA) X-rays to look at the size of the thymus gland Treatment There is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific symptoms. Support Groups Ataxia Telangiectasia Children's Project: www.atcp.orgNational Ataxia Foundation (NAF): www.ataxia.org 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 Complications Complications may include:Cancer, such as lymphoma LymphomaHodgkin lymphoma is a cancer of lymph tissue. Lymph tissue is found in the lymph nodes, spleen, liver, bone marrow, and other sites.ImageRead Article Now Book Mark Article Diabetes DiabetesDiabetes is a long-term (chronic) disease in which the body cannot regulate the amount of sugar in the blood.ImageRead Article Now Book Mark Article Kyphosis KyphosisKyphosis is a curving of the spine that causes a bowing or rounding of the back. This leads to a hunchback or slouching posture.ImageRead Article Now Book Mark Article Progressive movement disorder that leads to wheelchair use Scoliosis ScoliosisScoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...ImageRead Article Now Book Mark Article Severe, recurrent lung infectionsLung infectionsPulmonary angiography is a test to see how blood flows through the lung. Angiography is an imaging test that uses x-rays and a special dye to see in...ImageRead Article Now Book Mark Article When to Contact a Medical Professional Contact your provider if your child develops symptoms of this disorder. Prevention Couples 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.Open ReferencesReferencesGatti R, Perlman S. Ataxia-telangiectasia. GeneReviews [Internet]. 2016. PMID: 20301790 pubmed.ncbi.nlm.nih.gov/20301790/. Updated October 27, 2016. Accessed October 29, 2021.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.Safier RA, Cleves-Bayon C, Gaesser J. Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 16.AllVideoImagesTogAntibodies - illustration Antigens are large molecules (usually proteins) on the surface of cells, viruses, fungi, bacteria, and some non-living substances such as toxins, chemicals, drugs, and foreign particles. The immune system recognizes antigens and produces antibodies that destroy substances containing antigens. AntibodiesillustrationTelangiectasia - illustration Telangiectasia is the dilation of small superficial vessels and capillaries that cause numerous flat red marks on the hands, face and tongue. Telangiectasia can be a symptom of scleroderma or other systemic diseases.TelangiectasiaillustrationAntibodies - illustration Antigens are large molecules (usually proteins) on the surface of cells, viruses, fungi, bacteria, and some non-living substances such as toxins, chemicals, drugs, and foreign particles. The immune system recognizes antigens and produces antibodies that destroy substances containing antigens. AntibodiesillustrationTelangiectasia - illustration Telangiectasia is the dilation of small superficial vessels and capillaries that cause numerous flat red marks on the hands, face and tongue. Telangiectasia can be a symptom of scleroderma or other systemic diseases.TelangiectasiaillustrationRelated Information Pulmonary angiography(Medical Test)Hodgkin lymphoma(Condition)Diabetes(Condition)Scoliosis(Condition)Kyphosis(Condition)Hodgkin disease(In-Depth)Diabetes - type 1(In-Depth)Scoliosis(In-Depth) Review Date: 7/30/2021 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 Zieve, MD, MHA, 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. © 1997- © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.