Ataxia-telangiectasia
Última actualización 19 Sept 2022
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterised by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.
Descripción
Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterised by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.
Affected individuals tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. The level of this protein is normally increased in the bloodstream of pregnant women, but it is unknown why individuals with ataxia-telangiectasia have elevated AFP or what effects it has in these individuals.
People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia) and cancer of immune system cells (lymphoma). Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays.
Ataxia-telangiectasia has no cure, though treatments might improve some symptoms. These treatments include physical and speech therapy and improving deficits in the immune system and nutrition. The life expectancy of people with ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
A-T
Ataxia telangiectasia syndrome
ATM
Louis-Bar syndrome
Telangiectasia, cerebello-oculocutaneous
Related patient information and medicines
Patient information leaflet
Varicela en adultos y adolescentes
What is chickenpox. The chickenpox infection is caused by the varicella-zoster virus (VZV). The immune system makes proteins called antibodies during the infection. Inflammation of the lung (pneumonia) is a complication affecting about ... People who smoke are more likely to get this. Inflammation of the brain (encephalitis) and ataxia (problems.
Patient information leaflet
Varicela en niños
Serious complications are rare but are more likely to occur in children with a poor immune syste... What is chickenpox. Chickenpox is an infection caused by the varicella-zoster virus. Most children have chickenpox at some stage. Most commonly, children get chickenpox before the age of 10 years. Kidney inflammation (glomerulonephritis)..
Patient information leaflet
Neuropatía periférica
Inflammatory conditions Conditions including sarcoidosis and coeliac disease can also cause peripheral neuro... Hereditary diseases Certain diseases that you can inherit from your parents can cause peripheral neuropathy. Two of the most common of these are Charcot-Marie-Tooth syndrome and Friedreich's ataxia. Idiopathic peripheral neuropathy In a.
Patient information leaflet
Enfermedad celíaca
They should have a test for coeli. Unexplained peripheral neuropathy , which could be gluten neuropathy. Persistent, unexplained abnormal liver function tests. Unexplained ataxia, that could be gluten ataxia. (Ataxia is a rare brain condition which causes problems with balance and coordinating your movements.). Unexplained recurrent miscarriage or.
Patient information leaflet
Diabetes
Type 2 diabetes is more common in people who are overweight o obese. It tends to develop gradually (over months or years) because the changes in the body develop quite slowly. It is also called DIDMOAD (because it causes diabetes insipidus , diabetes mellitus, optic atrophy and deafness). Other genetic diseases that can cause diabetes : these.
Patient information leaflet
Planificación para quedar embarazada
This leaflet offers advice for women who are planning to become pregnant. The aim is to plan ahead to reduce the risk of any harm to the baby and to reduce the risk of pregnancy complications. Women on regular medication, or who have a long-term medical condition, may need to seek medical advice to discuss any changes which may need to be made..
Lecturas adicionales y referencias
- Ataxia-telangiectasia; MedlinePlus, National Library of Medicine.
- Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Olah E, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dork T, Digweed M, Sperling K, de Sa J, Lourenco CM, Varon R. New mutations in the ATM gene and clinical data of 25 AT patients. Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2.
- Hall J. The Ataxia-telangiectasia mutated gene and breast cancer: gene expression profiles and sequence variants. Cancer Lett. 2005 Sep 28;227(2):105-14. doi: 10.1016/j.canlet.2004.12.001. Epub 2005 Jan 8.
- McGrath-Morrow SA, Rothblum-Oviatt CC, Wright J, Schlechter H, Lefton-Greif MA, Natale VA, Crawford TO, Lederman HM. Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives. J Multidiscip Healthc. 2021 Jun 28;14:1637-1644. doi: 10.2147/JMDH.S295486. eCollection 2021.
- McKinnon PJ. ATM and ataxia telangiectasia. EMBO Rep. 2004 Aug;5(8):772-6. doi: 10.1038/sj.embor.7400210.
- Taylor AM, Byrd PJ. Molecular pathology of ataxia telangiectasia. J Clin Pathol. 2005 Oct;58(10):1009-15. doi: 10.1136/jcp.2005.026062.
- Veenhuis S, van Os N, Weemaes C, Kamsteeg EJ, Willemsen M. Ataxia-Telangiectasia. 1999 Mar 19 [updated 2026 Sep 22]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK26468/
- Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gomez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.