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Doctor insights on: Ashkenazi Genetic Diseases

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Are all autosomal dominant diseases inherited?

Are all autosomal dominant diseases inherited?

Or new mutations: Mendel's laws. For example, many cases of achondroplasia, which an autosomal dominant disease, happen in children of unaffected parents as a result of a mutation in a sperm or egg. ...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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Genetic disorder hht?

Genetic disorder hht?

HHT is genetic: Hht also known as hereditary hemorrhagic telangiectasia is a genetic condition that causes differences in how blood vessels are formed causing so-called arteriovenous malformations (avms) which on skin are called teleangiectasias, thus name of condition. Currently three genes are known to cause it. Nih site has good info: http://ghr.Nlm.Nih.Gov/condition/hereditary-hemorrhagic-telangiectasia. ...Read more

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Are muscular dystrophy diseases inherited?

Are muscular dystrophy diseases inherited?

Yes, virtually all: Heredity varies from autosomal dominant to recessive and a few sex linked, but these are indeed genetically mediated muscle disorders. ...Read more

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Are tumours genetically inherited?

Are tumours genetically inherited?

Can be: Many tumors can and do have a genetic inheritance pattern associated with them. However, many people develop tumors spontaneously without any family history and without any known risk factors. If you have something specific that you would like to discuss please feel free to write to me at: www.healthtap.com/drsaghafi And use Key Code: PDXFNR IF PROMPTED. ...Read more

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Is alzheimer's disease genetic?

Is alzheimer's disease genetic?

It depends: In rare families, there is an abnormal gene that is transmitted to children and there is 50% probability that the children will eventually develop alzheimer's disease. However, it is usually in families where several members develop alzheimer's disease in early age. Otherwise, there is inheritance of the form of apolipoprotein that increases the risk of developing alzheimer's disease earlier. ...Read more

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Are genetic diseases hereditary and present at birth?

Are genetic diseases hereditary and present at birth?

Yes: Genetic diseases by definition are carried in the dna of the patient. This can be evident early, like total albinism, or not be evident until very late in life like huntington disease. They may be inherited from their parents or emerge as a new mutation. New mutations, if not lethal, can be passed to future generations. ...Read more

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What are genetic diseases for jews?

What are genetic diseases for jews?

Many: The genetics of ashkenazi jews have been particularly well-studied, resulting in the discovery of many genetic disorders that are associated with this ethnic group. There are man but some are tay–sachs disease lipid transport diseases familial dysautonomia. ...Read more

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Is huntington's disease transferred genetically?

Is huntington's disease transferred genetically?

Yes: By an autosomal dominant gene. The chance of the offspring being affected is 50%. ...Read more

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Is paget's disease genetic?

Is paget's disease genetic?

Sometimes: There are two diseases termed "paget's disease." one is a rare type of breast cancer with unknown, likely multifactorial, etiology. The other is paget's disease of the bone for which there is a genetic predisposition and exposure to certain viruses may trigger the disease. Here's a link to more info about pagets of the bone: http://www.Mayoclinic.Com/health/pagets-disease-of-bone/ds00485. ...Read more

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Are congenital abnormalities genetic?

Are  congenital abnormalities genetic?

Sometimes.: Although it's true that most congenital anomalies (duodenal atresia, ventricular septal defect) have some (currently known or unknown) genetic underpinning, some clearly do not (amniotic band deformation sequence, hydranencephaly, gastroschisis, porencephaly) and some are due to teratogenic exposures unrelated to genetic information (valproic acid, paroxetine, coumadin, (warfarin) enalapril, alcohol). ...Read more

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Is tay-sach's disease associated with developing other genetic conditions?

Possibly: Because tay-sach's disease is one of several genetic diseases that can occur in people of ashkenazi jewish background, when screening is done for this disorder, usually several other disease states are screened for as well. This is a very complicated area to discuss and genetic counselling is best left to experts in this area. ...Read more

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Is addisons disease a genetic hereditary problem?

Is addisons disease a genetic hereditary problem?

Addisions is genetic: In 2012 the answer is usually yes. Tuberculosis caused dr. Addison to describe the condition. Now it is any failure of the adrenal glands. Today it does run in families where autoimmune diseases occur. (thyroid, diabetes, adrenal, celiac, etc). ...Read more

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Who should undergo genetic counseling for hereditary non-polyposis colorectal cancer (hnpcc)?

Who should undergo genetic counseling for hereditary non-polyposis colorectal cancer (hnpcc)?

Family history: There are a number of different inherited defects that cause hnpcc. A person with strong family history of colon cancer, occurring at a young age should seek counseling. ...Read more

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Is congenital heart disease genetic?

Is congenital heart disease genetic?

Some of it: Even though 8 out of every 1000 babies born will have have some form of heart defect, when there is a first line family member affected the number goes up to about 16-30/1000 (for some particular defects this number will be higher) so this would suggest a genetic component...We just haven't learned enough about genetics and the heart to be more precise, but this is changing every day. ...Read more

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Is sickle cell disease genetic?

Is sickle cell disease genetic?

Yes: The recessive sickle gene is carried silently in a percentage of the population.When two carriers produce offspring their is 25% risk with each conception that an affected baby will be born. ...Read more

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Can a pedigree trace autosomal recessive or autosomal dominant diseases?

Family tree: If you have enough information, a well filled out family tree can sometimes reveal patterns of inheritance. This includes autosomal recessive /dominant or x linked forms of inheritance. ...Read more

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What kind of genetic mutation causes refsum disease?

What kind of genetic mutation causes refsum disease?

Refsum's disease : The following link is a comprehensive review of Refum's disease by the nih. http://ghr.nlm.nih.gov/condition/refsum-disease ...Read more