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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!?

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

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What is the treatment for 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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How can I tell if my son is suffering from either early onset Parkinson's or ataxia telangiectasia?

How can I tell if my son is suffering from either early onset Parkinson's or ataxia telangiectasia?

How old is he? What: are his symptoms? I assume he is an adult, in which case you can only encourage him to see his primary care provider. If your son has altered gait, tremors &/or other neurological signs & symptoms, he'll probablybe referred to a neurologist. Such symptoms warrant evaluation & treatment, but it's his choice to seek medical care. ...Read more

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What do you suggest if my son is suffering from either early onset Parkinson's or ataxia telangiectasia?

What do you suggest if my son is suffering from either early onset Parkinson's or ataxia telangiectasia?

Totally different!: See a neurologist. The two conditions are totally different and can be diagnosed relatively easily by a specialist ...Read more

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What is the relation between the nature and symptoms of xeroderma pigmentosum and ataxia telangiectasia ?

What is the relation between the nature and symptoms of xeroderma pigmentosum and ataxia telangiectasia ?

Deficiency in some : part of cell mechanisms that detect & repair damage to DNA molecules that encode their genome occur in 5 inherited diseases: ataxia-telangiectasia (AT), Fanconi anemia, Bloom syndrome, Cockayne syndrome & Xeroderma Pigmentosum (XP).7 different mutant repair genes cause XP; types A, C, D & E are on Chromosome 9q.22. Mutations in ATM genes cause AT. Groups A,C,D & E are on Chromosome 11q2. ...Read more

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Questions on ataxia telangiectasia causes?

Questions on ataxia telangiectasia causes?

Genetic: Ataxia telangiectasia is caused by a genetic mutation. It is transmitted in an autosomal recessive fashion. This means that for a child to get the disorder, they need to get one damaged chromosome from both parents. Because the parents only had one damaged chromosome, they are not affected; however, the child with two damaged chromosomes, will show signs of the disease. ...Read more

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Sickle cell anemia:is this birth defect only due to genetics?

Yes: It is a defect present from birth, yes. Would i call it a birth defect, no. It is a genetically derived abnormality in the metabolism of hemoglobin that results in sickling of the red cells under some circumstances. As a metabolic disease, it is inherited in a similar fashion to pku or cystic fibrosis. The term birth defect is more appropriate for a kid with malformation of an organ or body part. ...Read more

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What genetic birth defects are associated when two first cousins have a baby?

What genetic birth defects are associated when two first cousins have a baby?

Autosomal recessive: There is increased risk of autosomal recessive type genetic disorders when close family members have a baby together. There are many of them but some examples include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. ...Read more

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Is clinodactyly a genetic disorder, birth defect?

Is clinodactyly a genetic disorder, birth defect?

Yes, but .....: Clinodactyly is a curve of one or more fingers, which is pretty common, especially for the pinkies, and no big deal at all. Technically it's a minor birth defect and usually not a sign of any problem. But sometimes it's one component of a rare genetic syndrome, like wahab syndrome (http://omim.Org/entry/615170) or a more common one, like down syndrome. I have a little clinodactyly myself! ...Read more

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Can genetic testing prevent birth defects in pregnancy?

Can genetic testing prevent birth defects in pregnancy?

Nope.: Genetic prenatal testing can detect many chromosomal or microscopic dna defects - but it cannot prevent birth defects! 2-4% of all newborns will have a minor or major birth defect and the vast majority of those have unknown genetic underpinnings at this time, although many of us are working to change that. Take Folic Acid 1-5 mg daily to prevent 75-95% of major neural/cardiac fetal anomalies! ...Read more

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Dr. Qamar Khan
191 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. Adam Lewis
56 doctors shared insights

Loss Of Coordination (Definition)

Loss of coordination is a symptom in which some parts of a person's body should but do not work together in a coordinated way. One example is when several muscles move in an uncoordinated manner, ...Read more