| Preferred Name |
Ataxia Telangiectasia |
| Definitions |
<p>Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include:</p><ul> <li>Ataxia - trouble coordinating <a href="https://medlineplus.gov/movementdisorders.html">movements</a></li> <li>Poor balance </li> <li>Slurred speech</li> <li>Tiny, red spider veins, called telangiectasias, on the skin and eyes</li> <li>Lung infections</li> <li>Delayed physical and sexual development</li> </ul> <p>People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence.</p> <p>A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. </p> <p class="">NIH: National Institute of Neurological Disorders and Stroke</p> |
| ID |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135 |
| cui |
C0004135 |
| Date created |
03/25/2004 |
| definition |
Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include:
People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and Stroke |
| Mapped from | |
| Mapped to | |
| MP OTHER LANGUAGE URL |
Spanish https://medlineplus.gov/spanish/ataxiatelangiectasia.html |
| MP PRIMARY INSTITUTE URL |
National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ |
| notation |
C0004135 |
| prefLabel |
Ataxia Telangiectasia |
| Related to | |
| Scope Statement |
Ataxia Telangiectasia (AT) is an inherited disease that affects several body systems, including the nervous system and immune system. Discover more.https://medlineplus.gov/ataxiatelangiectasia.html |
| tui |
T047 |
| subClassOf |