419 top medical experts on Ataxia Telangiectasia across 46 countries and 32 U.S. states, including 249 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Ataxia Telangiectasia: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive cerebellar ataxia; telangiectasis of conjunctiva and skin; dysarthria; B- and T-cell immunodeficiency, and radiosensitivity to ionizing radiation. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum alpha-fetoproteins are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Genetic Diseases (2,477), Spinocerebellar Ataxias (1,752), Primary Immunodeficiency Diseases (1,145), Telangiectasis (2,445), Neurocutaneous Syndromes (1,959), DNA Repair-Deficiency Disorders (751).
  4. Clinical Trials ClinicalTrials.gov : at least 29 including 2 Active, 12 Completed, 4 Recruiting
  5. Synonyms: Louis-Bar Syndrome


  

        

                    


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