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Doctor insights on: Chromosome 4 Huntington's Disease

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Is lou gehrig's disease dominant or recessive?

Is lou gehrig's disease dominant or recessive?

Neither: 90-90% of case of ALS are not inherited, it occurs at random at its cause is not known. In 5-10% of cases there is a familial form of the disease. In these 5-10% of cases it is usually dominant (meaning it is only necessary to have one copy of the defective gene) remember however most of the time it is not inherited at all. ...Read more

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Is pku and huntington disease the same disease entity?

Is pku and huntington disease the same disease entity?

Some comments: Pku is a problem with children and this needs early diagnosis to prevent profound complications. Huntington's chorea is an autosomal dominant disorder occurring later in life, and is relatively rare, but genetic counseling might be valuable. Neither disorder has any relationship to the other. ...Read more

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Dr. John Oro Dr. Oro
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What is ALS ( lou gehrigs disease )?

Dr. John Oro Dr. Oro
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What is ALS ( lou gehrigs disease )?

Paralysis of muscles: Lou gehrig's disease is also known as amyotrophic lateral sclerosis. The disease attacks nerve cells in the brain and spinal cord that run the muscles that we can normally control. The cause of the disease is not known. In about 10% it is genetic. People with lou gehrig's disease slowly become weak in the arms and legs, and can have difficulty speaking, swallowing, and breathing. ...Read more

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How is Parkinson's disease inherited?

How is Parkinson's disease inherited?

Mostly not inherited: The vast majority of people with parkinson's seem to get it sporadically, that is without any clear inheritance from family. That being said, we've found around 12 genetic variants that seem to greatly increase the risk of developing pd in some families. Some of them are recessive (rarely crops up), and some are dominant (50% chance of getting it from 1 affected parent). ...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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Is alzheimer's disease inherited?

Is alzheimer's disease inherited?

Likely yes: If there is a strong history of alzheimer's disease in the family like grandparents, parents, uncles, aunts, brothers or sisters, then you could be at risk of developing it. ...Read more

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Is hirschsprung's disease inheritiable?

Is hirschsprung's disease inheritiable?

Constipation: Hirschsprung's disease is a congenital disease. You are born with it. It causes constipation and /or obstruction due to non functioning of intestinal nerves. It is treatable, but may require surgery to diagnose and treat. In some cases it is heriditary but usually it is sporadic. ...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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How rare is huntington's disease in grandkids?

How rare is huntington's disease in grandkids?

Huntington: The classic symptoms start after 30 depending on the number of repeats-the higher the repeats earlier age onset--but juvenile huntington start as teenager when repeats are above 55--an asymptomatic child does not mean he does not have the genetic disorder which will manifest latter--- another group of disorders huntington like start earler does not have the same genetic defect. ...Read more

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Is alzheimer's disease a hereditary trait in extended families?

Is alzheimer's disease a hereditary trait in extended families?

Yes it can: There are some rare families where 50% of the members inherit a bad gene and develop alzheimer's disease. Very often, they develop the disease in relatively early age. ...Read more

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What kind of gene mutation is canavan disease?

What kind of gene mutation is canavan disease?

Recessive defect: Canavan disease occurs when a baby inherits a mutated gene from both parents, that when normal codes for the production of an enzyme called aspartoacyclase.Having only one mutated gene allows production of the enzyme so carriers (the parents) have no problems. ...Read more

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Which chromosome does tay-sachs disease change?

Which chromosome does tay-sachs disease change?

15: Tay sachs is an autosomal recessive disorder affecting chromosome 15 in the "hexa" gene. ...Read more

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Is lou gehrigs disease sex linked?

No: Most of it is sporadic. I do not know any variants of lou gehrig's that travel on the x-chromosome. This is in contrast with duchenne's / becker's muscular dystrophy, a weakness syndrome on the x chromosome that might be mistaken for lou gehrig's by a very inept physician. Lou gehrig's is amyotrophic lateral sclerosis. It is also unrelated to sexual activity. ...Read more

Dr. Jay Park Dr. Park
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Is williams syndrome a gene or chromosomal mutation ?

Dr. Jay Park Dr. Park
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Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

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What parent is charcot marie tooth disease inheritable from?

What parent is charcot marie tooth disease inheritable  from?

Either Parent!: Cmt is caused by defects in the genes for proteins that affect axons. Cmt can be inherited in several ways:autosomal dominant (faulty gene contributed by either parent);autosomal recessive (faulty gene contributed by each parent);or x-linked (gene on the x chromosome contributed by either parent.) in other words, unlike color-blindness, which is a sex-linked trait, CMT seems to come from either. ...Read more

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I'm curious as to what specific mutation causes huntington's disease?

I'm curious as to what specific mutation causes huntington's disease?

Triplicate repeat: Hd falls into a category of genetic disorders where there is a genetic expansion. Within the genetic sequence, there is an area where the sequence cag is repeated a number of times. Most individuals have less than 35 repeats. When there is more than 35 repeats, the person develops hd and the greater the number of repeats the earlier the onset of symptoms in most situations. ...Read more

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What are the tests of the disorder "huntingtons disease or hungtingtons chorea" ?

What are the tests of the disorder "huntingtons disease or hungtingtons chorea" ?

Genetic test: Huntington's disease is due to an autosomal dominant mutation of the huntintin gene. The most definitive diagnosis of this disease is a positive test for this mutation. This genetic testing can be done before symptoms develop, but early diagnosis does not affect the outcome of the disease. Genetic counseling is recommended before testing. ...Read more

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Is fabry disease dominant or recessive? Any answer appreciated.

Is fabry disease dominant or recessive? Any answer appreciated.

X-linked: It is an X-linked inheritance. That means it is found as a mutation on the X chromosome . Males are XY and so one gene mutation in that X chromosome that affects the alpa-galactosidase enzyme will cause the disease. Females are XX and so if one x chromosome has the mutation ,they will often experience a lesser form of Fabry Disease or no symptoms at all. ...Read more

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Is Alzheimer's disease a disease where genetic testing is recommended?

Is Alzheimer's disease a disease where genetic testing is recommended?

Offered .. sometimes: Alzheimer disease is a condition for which we have several genetic tests - apoe e4, app, psen1, & psen2. However, these tests are not used to establish the diagnosis of alzeimer disease. Instead we use them sometimes to help understand inheritance & risk, which is rather tricky. Extensive eduation & genetic counseling are very helpful, but the decision to test or not test should always be yours. ...Read more