FAQ - Sandhoff Disease
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Does anyone know the odds of being a carrier for Sandhoff Disease?

I found out that I am a carrier for this rare disease that is similar to Tay-Sachs, but I was curious if anyone knows the actual odds of being a carrier?
I know the odds of a child being born with Sandhoff if both parents are carriers, what I was wondering is if anyone knew the odds of being a carrier?

Sandhoff disease can occur in any ethnic group, though it is uncommon. Individuals NOT of Jewish ancestry are more likely to carry one of the gene mutations that causes Sandhoff disease than those of Jewish ancestry (1 in 600 vs. 1 in 1,000 chance of carrying a mutation in this gene)--roughly, a .2% chance.

There is a 50 percent (2-in-4) chance that the child will inherit one normal and one abnormal gene. The child will not have the disease but will be a carrier like the parents.
If only one parent is a carrier, none of that person’s children can inherit the disease. However, each child has a 50 percent chance of inheriting the gene mutation and being a carrier.

You have a 25 percent (1-in-4) chance of having a child with Sandhoff disease if BOTH you and your spouse are carriers.
Since Sandhoff is a recessive genetic disorder, both parents must be carriers for Sandhoff disease in order to have a child with Sandhoff disease. Genes come in pairs, and a carrier of Sandhoff disease has one ß subunit for Hex-A and Hex-B that works and one that does not. This means carriers have about half the normal amount of Hex-A and Hex-B activity, but that’s still enough for them to be completely healthy. However, if each parent passes the non-working copy of the ß subunit gene to his/her child, the child will develop Sandhoff disease. Statistically speaking, if both parents are carriers, they have a 25 percent chance of having a child with Sandhoff disease with each pregnancy.

Because of the nearly total absence of hexosaminidase activity in affected individuals, laboratory diagnosis of an affected child as well as prenatal diagnosis is accurate and reliable. However, enzyme assay for the adult carrier requires special care and careful standardization of the laboratory test. DNA analysis are also available for families in which the specific beta-subunit mutations have been identified; when these are known, the DNA-based tests provide the highest level of specificity and accuracy for both carrier testing in relatives and for prenatal diagnosis. Assistive reproduction technologies such as pre-implantation genetic diagnosis are available to at-risk couples with known DNA mutations who wish to have children but for whom termination is not an option.

NTSAD has current information available on where to obtain the tests that are critical to the diagnosis and management of Sandhoff disease within families.

Sandhoff disease, like Tay-Sachs, is an autosomal recessive disorder but, unlike Tay-Sachs, occurs more commonly in the non-Jewish population. In fact, given the higher incidence of Sandhoff in non-Jews and the clinical similarity of the two diseases, it is probable that some of the non-Jewish children diagnosed before the availability of the laboratory tests actually had Sandhoff disease.  (+ info)

What is the definition of a disease, and specifically a mental disease? Has science truly failed?

I think this is the biggest failure of science and generally the world. It is full of imperfections, even though religion is not a better alternative.

But, what can you define as a disease; and what can you not? First of all, we have to realize that all humans are different physically. But they should be treated equally on moral basis, and on the basis of humanity (whether its gay ppl, straight ppl, women, old ppl; they should be treated equally on moral grounds).

Because people are different physically; they exhibit different behavior due to the chemistry of their body. Here is where the tricky part comes. What can you categorize as an illness/disease/disorder and what can you not? This is the biggest failure of science: why do you need to categorize things into illnesses and non-illnesses? It is clear you are letting your bias through. Modern feminists define rape that is only committed by a man on a woman. So there come the discrepancies. Why can you not accept behavior that everyone's behavior is deviant from one another. Why do we have to claim somethings are anomalies, and some are not? I know pedophilia and rape is wrong, but can you categorize is as an illness/disease/disorder? Do we have any proof that pedophilia and rape are not illnesses/diseases/disorders? Is there any proof that homosexuality is not an illness/disease/disorder? I dont think so.

So why do we have to say that pedophilia and rape are done intentionally, when they could very well be 'illnesses'. And how can we say homosexuality is not a disease/disorder when it could be?

The fact is that these are faulty premises. We cannot categorize things into illnesses/diseases/disorders. Everyone is different from each other physically and psycologically. That is the best way to deal with things. Science cannot even come to a consensus when (at what time period) a child in a mother's womb is alive; or whether abortion is murder or not (after what stage). So i think science has failed in that aspect.

Feminists wants the EXACT same physical rights for women that they want for men. Men and women are different physically, remember that. So I would want rights to be 'balanced out' between male and female; and that would constitute as EQUAL rights, not the EXACT SAME rights.

Is there any proof that homosexuality is NOT a disorder/illness. Then why does science say it is NOT a disorder/illness? Is there any proof that pedophilia/rape is NOT a disease.

Please answer these questions, and give me conclusive studies NOT theories for this. Evolution as you like it or not is NOT proven, it is a THEORY. I also mentioned religion is not a better alternative.

Science is science. Medicine is medicine,.Religion is religion. Religion should not mix in often with the first two, and then, only rarely.
None are absolutes, they are always changing and being refined, sometimes out and out shook up and turned on their heads.
You can define plenty of things as illness/ disease and others as disorders.

I think you are concentrating on the grey areas of how religion and culture can shape policy and definitions and blaming science for those grey areas. Please remember all areas of science, medicine, religion, and politics are influenced by PEOPLE. People have opinions/beliefs,etc. and those opinions influence how they are going to interpret their work and world outlook. So if you want to blame anyone for the grey areas, blame the people that create them, NOT science.

and as for equal rights, we just want the same opportunities when qualified, and the same pay for the same work.
Please remember ALL people are physically different. Compare Don Knotts to her: http://www.wrestlingkingdom.com/women/women_of_wrestling_good.html and tell me who is physically (strength wise) superior?

p.s. this is getting pretty close to a rant which is illegal on yahoo answers. Most of this should be in the philosophy or the R/S section anyway. They are used to this sort of thing there. We usually just answer questions about diseases here.

Evolution- you need to look up what that means, seriously. Are you very young and go to an evangelical church or anything? I see this sort of thing in the RS section all the time, usually by youngsters who haven't attended 9th grade biology yet. Ok, Have you ever heard of MRSA, VRSA, antibiotic resistant Tuberculosis? Well, there is evolution in action. You also need to look up the scientific definition of Theory is. Here are a few more "the THEORY of GRAVITY" the THEORY of ELECTRICITY". lol! This is just plain silly, please post elsewhere!  (+ info)

What is the difference between an immune disorder and an autoimmune disease?

1.What is the difference between an immune disorder and an autoimmune disease?

A.When an immune disorder becomes very severe, it becomes an autoimmune disease.
B.An immune disorder occurs when the immune system does not function properly. An autoimmune disease occurs when the body's immune system attacks its own cells.
C.An immune disorder is the overreaction of the immune system to substances that are not dangerous. An autoimmune disease occurs when germs affect the immune system.
D.An immune disorder is a disease caused by germs, such as pollen or dust. An autoimmune disease occurs when the body's immune system attacks its own cells.
2.An allergy is an overreaction of the immune system to

B.a substance in the environment.
C.carbohydrates in food.
D.an autoimmune disease.
3.During an asthma attack, the

A.bronchial airways narrow and become clogged with mucus.
B.bronchial airways constrict in response to environmental stimuli.
C.lining of the air passages swell and become inflamed.
D.All of the above
4.All of the following are good steps to take to avoid an allergic reaction except

A.avoiding substances you are allergic to.
B.washing sheets and blankets weekly.
C.cleaning bathrooms and kitchens to avoid molds.
D.taking long-term control drugs every day.
5.Which of the following is not an example of an autoimmune disease?

A.rheumatoid arthritis
B.type 1 diabetes
C.multiple sclerosis
6.Most allergies and autoimmune diseases can be

B.treated with medication.
C.eliminated with stress management techniques.
D.reduced by avoiding allergens.
7.Which of the following suggestions is not an important step to take if you are diagnosed with an immune or autoimmune disease?

A.Follow your treatment plan without asking any questions.
B.Let your doctor know if new symptoms occur.
C.Be honest with your doctor.
D.Learn about medications and medical tests necessary for your condition
8.Match the following terms to their definitions.
1.itchy swellings on the skin caused by allergies to foods or certain drugs
2.an autoimmune disease in which the immune system begins to destroy the linings of the joints
3.a disease in which the immune system attacks the cells of the body that it would normally protect
4.a disorder that causes the airways to become narrow and clogged with mucus
5.a disease in which the joints of the skeleton wear out as a person ages

A.rheumatoid arthritis
B.autoimmune disease

Do your own homework.

You - FAIL  (+ info)

What disease are related to the skeletal or muscular system of the body?

Use an internet source to provide some information about a disease related to the skeletal or muscular system of the body.
Answer the following questions:
1. What is the disease and what effects does it have on a patient.
2. What is the prognosis?
3. What can be done to cure or treat symptoms of the disease? (example: medications, therapy, amputation--yikes!)

Check out DMD
1. Problem: defective gene resulting in abnormality of the muscle cell membrane scaffolding protein dystrophin. Result progressive muscle wasting and weakness...to the point of wheel chair confinement and eventually to the point where your respiratory muscles aren't strong enough to breath
2. There's no cure. Death by their 20's
3. No meds. rehab therapy, light exercise to promote strength and stamina. Will need a wheel chair. May need surgeries to prevent permanent contraction of the tendons (contractures). May need ventilatory support

http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm  (+ info)

What is a disease that is caused by dysfunction in the production of a hormone in an endocrine gland?

What are the symptoms of this disease?
How is this disease treated?
Can this disease be cured completely?

Are you thinking , Thyroid? If so, take thyroxin to supplement the deficiency. Otherwise, there are many endocrine hormones that can get out of whack. Some you use drugs to suppress the gland that is overactive which cause another gland to be out of whack. For example. The kidney has an adrenal gland that controls testosterone, so if you have polycystic ovaries, this can cause the adrenal gland to over produce testosterone causing facial hair, deepened voice and excess testosterone in women causing the women not to have menstrual cycles and also cysts on their ovaries. They use a diabetic drug to also control this or a drug called spironolactone. This just shows you how entailed the endocrine system truly is.  (+ info)

What disease has normal white count and a high level of creatine kinase?

In NCIS, Director Shepard had some sort of fatal disease, and in the episode "Stakeout," Abby discovers that the Director's blood has a normal white count and a high level of creatine kinase. What diseases could this indicate?

it could be
Heart Disease
or Thyroid Disease

It really could be a lot of things... would need more information!  (+ info)

What is the disease that stops the muscles in the face to move?

A disease which attacks the muscle motors, so that the muscles in the face won't move. What is the name for the disease?

Erb's Palsy  (+ info)

What is the disease that causes sunlight to burn after a few minutes and can kill?

I saw on TV , along time ago, that there is a town that "runs" at night time. I believe it is a town that started living at night time because of this disease. I don't remember what the disease is or what the name of the town is. Can anyone help me out on this?

xeroderma pigmentosum. I don't know about any town catering to these people, but that would be really cool!  (+ info)

What is the disease called that looks like cancer but is not it?

There is a disease that looks like cancer, gives cancer like symptoms and gives you every reason to believe it's cancer but it's not. What is this disease called?

Are you thinking of the word... 'Benign'? Hope this info helps.  (+ info)

What disease makes a person constantly tired and have a constant sore throat?

Hi about a month ago I had a really bad illness. I had a high fever, aches everywhere and was just very cold. All those syptoms vanishes after having Antibiotic for a good three days but soon after I had this feeling of being generally tired and seeming to yawn very frequently. And every morning I wake up with a sore throat, but it usually goes away in about an hour after waking up. I was wondering if there is a disease that has these certain symptoms? thanks.

Chronic Fatigue Syndrome seems like it fits your description pretty well: extreme tiredness is the main symptom, but sleep issues and problems with concentrating are also common complaints. CFS may also cause headaches, muscle and joint pains, a sore throat, or swollen glands.

Doctors have not determined a specific cause, but CFS may begin after another illness (such as the flu). Treatment is still trial and error based and I'm not a doctor so make sure you check in with your own physician before making any decisions. Good Luck.  (+ info)

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