Ataxia telangiectasia

Below you will find more information about Ataxia telangiectasia from Medigest. If you believe that you are suffering from any of the symptoms of Ataxia telangiectasia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Ataxia telangiectasia and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Ataxia telangiectasia comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Ataxia telangiectasia is a main immunodeficiency disorder that happens in an anticipated occurrence of 1 in 40,000 to 1 in 300,000 births. Other term for this disorder is Louis-Bar syndrome or Boder-Sedgwick syndrome. It is a congenital progressive multi-system ailment. Initially it starts as progressive cerebellar ataxia the followed by conjunctive and cutaneous telangiectasias, immune deficiencies, and recurrent sinopulmonary infections in later stages. There is also a related 100-fold augmented mortality danger. Cerebellar atrophy is most outstanding in the part of vermis as well as augmented neighboring cerebrospinal spaces and prominent folia using MRI.


In 1 per 40, 000 - 100,000 people worldwide have Ataxia Telangiectasia. In US, 68,000 people are affected by this disorder.


In 1995, Savitsky and company, a group supervised by Yosef Shiloh of Tel Aviv University in Israel, discovered the gene responsible in AT. Ionizing radiation (IR) and tendency to cancer, to chromosomal volatility, irregularities in hereditary recombination, and faulty signaling to programmed cell death and numerous cell rotation checkpoints triggered by DNA damage, are linked to the hyper-sensitivity of AT patients. In DNA damage recognition, it has been predicted that the altered gene in AT played a role in previous experiments. The predictions were verified when a one gene on chromosome 11 (11q 22-23) was found. The protein result of the ATM gene has been exposed to be a part of the eukaryotic cell phase control, DNA restoration, and DNA recombination (Lavin, 2004) since it was found. The AT gene is used as a tumor suppressor gene by way of contributing to a group of genes that connect double stranded breaks in DNA cell cycle arrest and programmed cell death. Patients are susceptible to constricting cancer.


Individuals who are affected usually dies in their early 20's and but some have lived up to over 40 years. Penetrance of 60% by age of 70 are believed to be acquired by carriers of ATM mis-sense mutations and 16x risk to breast cancer from the normal population. A lifetime risk for both null and mis-sense mutations is listed to have 10-38% that is still a hundred fold increase from population risk. Gastric and lymphoid tumors, increased risk from lung tumors as well as breast cancer are the risk that carriers of single mutation face. In cancer patients, S707P is commonly known and related with Hodgkin's lymphoma is F1463S. AT patients die from pulmonary infections (46%), the rate of individuals dying from malignancies is 21% and the rate for both pulmonary infection and malignancies is 28% this is according to studies conducted. If by chance AT is completely removed, survival is consistent into 5th to 6th decade.

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