A to Z: Ataxia Telangiectasiaenparentshttps://kidshealth.org/EN/images/headers/KH_generic_header_02_1.jpgLearn about this genetic disorder that can weaken the immune system and cause gradual worsening of balance, coordination, and speech.Ataxia telangiectasia, A-T, ataxia-telangiectasia, Louis-Bar syndrome, LBS, ataxia, telangiectasias, brain, cerebellum, muscle movement, immune deficiencies, immune system, lung disease, respiratory infections, pneumonia, leukemia, lymphoma, degenerative conditions, eyes, abnormal eye movements06/08/201503/18/201903/18/20199ec69a2f-1d76-4721-904e-53f1d751110chttps://kidshealth.org/ws/RadyChildrens/en/parents/101560.html/<p><em>May also be called: A-T, Ataxia-Telangiectasia, Louis-Bar Syndrome, LBS</em></p> <p>Ataxia telangiectasia (ay-TAK-see-uh teh-lan-jek-TAY-zhee-uh) is a rare genetic disorder that causes immune deficiencies and degeneration of the part of the brain that controls movement and speech.</p> <h3>More to Know</h3> <p>Ataxia telangiectasia (A-T) happens when a child inherits two mutated copies of a <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/about-genetics.html/">gene</a> that helps control cell division and DNA repair. A-T is an autosomal recessive disorder, which means that two healthy parents who each have one mutated copy of the gene have a 1 in 4 chance of having a child affected by A-T.</p> <p>A-T is usually noticed in the second year of life as a child develops problems with balance and slurred speech caused by ataxia (lack of muscle control). The ataxia occurs because the cerebellum, the part of the brain that controls muscle movement, becomes weaker over time. Eventually, the lack of muscle control becomes severe enough for the child to require a wheelchair, usually by early adolescence.</p> <p>Other symptoms of A-T include abnormal eye movements and tiny, red, spiderlike veins in the corners of the eyes or on the ears and cheeks when exposed to sunlight. These veins, known as telangiectasias, are harmless. About 70% of children with A-T also have immune system problems that make them more susceptible to lung disease. These children often have chronic upper respiratory infections, lung infections, and <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/pneumonia.html/">pneumonia</a>. They're also more likely to develop certain cancers, such as <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/cancer-leukemia.html/">leukemia</a> and <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/cancer-lymphoma.html/">lymphoma</a>.</p> <p>Treatment for A-T is focused on treating symptoms and related conditions and may involve medications to treat infections and bolster the child&rsquo;s immune system, as well as physical therapy and occupational therapy to help maintain flexibility and address slurring and other speech problems.</p> <h3>Keep in Mind</h3> <p>Currently, there is no cure for A-T and no way to stop its progression, but proper treatment can help kids manage symptoms and achieve their best possible quality of life. The expected life span of a child with A-T depends upon the severity of the condition.<br /> <br /> <em>All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts.</em></p>
All About GeneticsRead the basics about genetics, including how certain illnesses, or increased risks for certain illnesses, pass from generation to generation.https://kidshealth.org/ws/RadyChildrens/en/parents/about-genetics.html/0a35cfc5-5d12-46d2-b0a9-ffae83cace5c
Birth DefectsSome birth defects are minor and cause no problems; others cause major disabilities. Learn about the different types of birth defects, and how to help prevent them.https://kidshealth.org/ws/RadyChildrens/en/parents/birth-defects.html/eeaa74ff-3f65-4df3-8757-9df2d014c2ee
Gene Therapy and ChildrenGene therapy carries the promise of cures for many diseases and for types of medical treatment most of us would not have thought possible.https://kidshealth.org/ws/RadyChildrens/en/parents/gene-therapy.html/a62423ca-6e1e-4a80-b100-ddeec746b2b5
Immune SystemThe immune system, composed of special cells, proteins, tissues, and organs that protect against germs and microorganisms, is the body's defense against disease.https://kidshealth.org/ws/RadyChildrens/en/parents/immune.html/d5495b69-ecfe-4b16-a87f-a9f5664e71d6
LeukemiaLeukemia refers to cancers of the white blood cells. With the proper treatment, the outlook for kids with leukemia is quite good.https://kidshealth.org/ws/RadyChildrens/en/parents/cancer-leukemia.html/d78fde51-319d-4c82-9476-e1e16f31c187
LymphomaLymphoma is cancer that begins in the body's lymphatic tissue. It's a common type of cancer in children, but most recover from it.https://kidshealth.org/ws/RadyChildrens/en/parents/cancer-lymphoma.html/0ad821a9-0139-4995-81e6-6c365a632f00
kh:age-allAgesOrAgeAgnostickh:clinicalDesignation-geneticskh:genre-articlekh:primaryClinicalDesignation-neurologyAhttps://kidshealth.org/ws/RadyChildrens/en/parents/dictionary/a/891958dd-782d-4b8e-b649-d7c34f646eec