WebBreve descripción de la Ataxia-Telangiectasia Adaptado de la Enciclopedia de Orphanet para profesionales [1] Definición: La ataxia-telangiectasia es una enfermedad que asocia una inmunodeficiencia combinada grave, que afecta principalmente a la respuesta inmune humoral, con una ataxia cerebelosa progresiva. Web1995年にATM(Ataxia telangiectasia mutated)遺伝子が、Ataxia telangiectasiaの責任遺伝子として同定された。遺伝子は11q22.3に位置し、66のエクソンからなり、全長150KBのゲノムDNAから成る。遺伝子産物であるATMはDNA損傷修復応答の鍵となる分子である。 4. …
Ataxia telangiectasia - Socialstyrelsen
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are … See more There is substantial variability in the severity of features of A–T among affected individuals, and at different ages. The following symptoms or problems are either common or important features of A–T: • See more How loss of the ATM protein creates a multisystem disorder A–T has been described as a genome instability syndrome, a DNA repair disorder and a DNA … See more Ataxia and other neurologic problems There is no treatment known to slow or stop the progression of the neurologic problems. Immune problems See more Individuals of all races and ethnicities are affected equally. The incidence worldwide is estimated to be between 1 in 40,000 and 1 in 100,000 people. See more A–T is caused by mutations in the ATM (ATM serine/threonine kinase or ataxia–telangiectasia mutated) gene, which was cloned in 1995. ATM is located on human … See more The diagnosis of A–T is usually suspected by the combination of neurologic clinical features (ataxia, abnormal control of eye movement, and postural instability) with telangiectasia and … See more Median survival in two large cohorts studies was 25 and 19 years of age, with a wide range. Life expectancy does not correlate well with severity of neurological impairment. See more WebAtaxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system … how many meters can bluetooth reach
Ataxia - NHS
WebA ataxia-telangiectasia é uma imunodeficiência primária . Em geral, é herdada como uma doença autossômica (não ligada ao sexo) recessiva . Isto é, são necessários dois genes … Web11番染色体上のATM(Ataxia Telangiectasia Mutated)遺伝子異常による。常染色体劣性遺伝形式をとる。 類縁疾患として、Ataxia-telagiectasia like disease (ATLD)があり、MRE11遺伝子異常を伴い、常染色体劣性遺伝形式をとる。 Web中文检索词为“ATM 蛋白表达”（共济失调毛细血管扩张突变基因蛋白OR ATM 蛋白）、“宫颈癌”（宫颈癌OR 宫颈恶性肿瘤OR 宫颈上皮内瘤变）、“放射疗法”（放疗OR 放射疗法OR 辐射敏感性），英文检索词汇为“Ataxia telangiectasia mutated protein”“ATM protein”“Cervical cancer tissue”“Intraoperative Radiation ... how are mice getting into my attic