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Doctor insights on: Ataxia Telangiectasia Genetics Birth Defects

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Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Perhaps: It is a genetic disorder with the parents acting as carriers. Atcp.Org might be a good starting place to investigate genetic counseling prior to conception and try to evaluate your risk. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Could I be suffering from either early onset Parkinson's or ataxia telangiectasia?

Could I be suffering from either early onset Parkinson's or ataxia telangiectasia?

What symptoms?: What symptoms are you experiencing? Ataxia telangiectasia is a genetic condition that manifests in children, so it is unlikely that you are developing this condition now. However, without any more details, it is difficult to point you in any particular direction. ...Read more

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Does anyone know of any good sites for information about ataxia telangiectasia?

Does anyone know of any good sites for information about ataxia telangiectasia?

Try these: I would refer to the national institute of health page at: http://www.Ninds.Nih.Gov/disorders/a_t/a-t.Htm as well as the national cancer institutes site at http://www.Cancer.Gov/cancertopics/factsheet/risk/ataxia these sites document frequent causes of morbidity in at, notably the ataxia as well as susceptibility to malignancy and immunocompromise that occur in this condition. ...Read more

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What treats ataxia telangiectasia!?

What treats ataxia telangiectasia!?

Symptomatic: Ataxia telangiectasia is a genetic condition with no cure. As such, therapy is directed at treating consequences of this disease. For example, it is best to avoid excess radiation (excess x-rays, ct scans) be wary of any signs of infection (due to immune compromise) and be vigilant about signs of malignancy (weight loss, night sweats, etc.). Physical therapy is also recommended for ataxia. ...Read more

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What is the cure of ataxia telangiectasia?

Unfortunately none: Unfortunately there is no cure for ataxia telangiectasia. The only treatment is physical and occupational therapy to help maintain function that remain as the disease progresses. ...Read more

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What sort of problem is ataxia telangiectasia?

What sort of problem is ataxia telangiectasia?

Ataxia: Ataxia telangiectasia is a condition in which abnormal vessel growth occurs in various parts of the body, especially in the motor control portion of the brain base (causing ataxia) and other parts of the body including the retina, kidney and other internal organs. It needs careful following by your physician with neurologic input at times. ...Read more

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What are the symptoms of ataxia telangiectasia?

Many components: This is a recessive inherited disorder with many manifestations, most starting in early childhood including ataxic (drunken like) walking, peculiar eye tracking motions which inhibit learning, telangiectasia which are dilated blood vessels especially prominent on the eyes but also in sun exposed areas, and many other problems. Your pediatrician can help with diagnosis and management. ...Read more

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Please tell me what causes ataxia telangiectasia!?

Genetic disorder: Louis–bar syndrome) is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels. A-t is caused by a defect in the atm gene, causing the gradual difficulty in coordination in walking, eye movements, etc. ...Read more

Dr. Mark Ingerman
183 doctors shared insights

Ataxia (Definition)

Ataxia means movements without coordination. People with ataxia have incoordination because the parts of the nervous system that control movement and balance are not working properly. Ataxia can be associated with infections, injuries, or degenerative changes in the central nervous system. Ataxias may be hereditary ...Read more


Dr. Nikolaos Zacharias
467 doctors shared insights

Birth Defects (Definition)

Birth defects is a term for structural or functional abnormalities that a baby is be born with. These defects can be the result of genetic mutations or external insults to the developing fetus, such ...Read more