ataxia-telangiectasia (at) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. the atm gene on human chromosome 11q22.3 has recently been identified as the gene responsible for ataxia-telangiectasia (at). the gene mutated in at, which has been designated as the atm gene, encodes a large protein kinase with a pi...

the patient was a 22-year-old female with ataxia-telangiectasia presented with progressive dysphagia to solid food from 2 months ego. she had lost 17 kg in that period. physical findings were cachexia, telangiectasias of sclera, ataxia in limbs movements and epigastric tenderness.there was a tumoral lesion in gastric lesser curvature with extension to esophagogastric junction in endoscopy. path...

Background: Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder caused by variants of ATM (ataxia telangiectasia mutated) gene. These patients develop metabolic changes over time. We aimed to assess the correlation between neurological features, nutritional status, and in AT patients.Methods: Cross-sectional study with prospective data from 25 aged 5 31 years.Results...

backgroundataxia telangiectasia (a-t) is a common genetically inherited cause of early childhood-onset ataxia. the infrequency of this disease, vast phenotype variation, disorders with features similar to those of a-t, and lack of definite laboratory test, make diagnosis difficult.  in addition, there is no rapid reliable laboratory method for identifying a-t heterozygotes, who susceptible to i...

Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.

Ataxia Telangiectasia is a rare autosomal recessive disease characterized by progressive neurological dysfunction, immunodeficiency, telangiectasia, chromosomal problems, and sensitivity to radiation, infection, susceptibility cancer. A 5-year-old girl with applied our rehabilitation center due balance coordination problems. Step length, double step width cadence were calculated in the patient ...

Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clinical features patients resemble those telangiectasia (AT), slower progression milder presentation. Main symptom...