FAQ - Leigh Disease
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how man children were diagnosed with leigh disease/syndrome in 2007-2008 in the us or the world?


i need a statistic
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You may have to call a foundation for this info 888/663/4637 March of Dimes  (+ info)

Do you know anything about Leigh's Disease?


Can anyone tell me about this disease?
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it is a rare,inherited Metabolic Disorder,which affects the Central Nervous System.Affects Infants more than it does Adults.
Symptoms can be :loss of Appetite,vomiting,continuous crying(infants) seizures, Loss of Motor skills.
Adults may also suffer from Kidney and Heard Failure.
There is no cure, current treatment is Vitamin B1.
But even with treatment this disorder is always fatal.Children often survive not the 1 Year of Life. For Adults it can take longer depending on any other underlying disease.
I hope that helped you.
Nurse from Seattle  (+ info)

I need information on the rare genetic disease, Leigh Disease. Please help me!?


I have to do a school project about leigh disease. I cant find anything about it because its so rare. I need to know the inheritance pattern which is confusing, the prevalance, i need to make a sample pedigree of a family with this disorder, and carrier frequency for general population. There was other info we needed but i found the rest, so i just need help with these. Also we need to put a video in the presentation, i cant find any! please help me!! thank you so much!
i have all the links, like i can look them up i just need u to help me explain the inheritance pattern, and such. and i really need a video
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Patterns of inheritance include X-linked recessive, autosomal (meaning either gender can get it) recessive (both parents must carry a recessive gene, heterozygous OR homozygous), and mitochondrial.

Here's some links to help with mapping out a pedigree:
http://www.bioinformatics.nl/webportal/background/mendelinfo.html
http://www.changbioscience.com/genetics/punnett.html

Leigh syndrome, or a subtype of Leigh syndrome, affects less than 200,000 people in the US population.

This is the only video I could find: http://www.youtube.com/watch?v=yWX425EQgOA  (+ info)

what is leigh's disease?


i have a close friends with the disease
she is legally blind
what are some other symptoms of the disease?
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Leigh's disease is a rare inherited neurometabolic disorder characterized by degeneration of the central nervous system. Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually begin between the ages of 3 months to 2 years and progress rapidly. In most children, the first signs may be poor sucking ability and loss of head control and motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. Heart problems may also occur. In rare cases, Leigh's disease can begin during late adolescence or early adulthood and progress more slowly.

Is there any treatment?
The most common treatment for Leigh's disease is thiamine or Vitamin B1. In patients who have a deficiency of pyruvate dehydrogenase enzyme complex, a high-fat, low-carbohydrate diet may be recommended. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Experimental protocols are currently using dichloroacetate to treat patients with lactic acidosis.

What is the prognosis?
The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Some have survived to their mid-teenage years.

What research is being done?
The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease. The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose, treat, and prevent them.  (+ info)

Leigh's disease?


my cousins baby has recently passed away at 7 months of age. from leighs disease and amonia in hospital she was rushed to hospital as she stopped breathing. and this is her first baby and was told not to have any more children is this a heridtory thing? i just feel so numb and sad for her!

has anyone else dealt with this disease and how long until they passed away or do you know someone is suffering with it?

thanks again

Secret P
Thanks for all the information. and it is a sad time for her :(
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  (+ 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.
EDIT:

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.
EDIT

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.
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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

A.dust.
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
D.AIDS
6.Most allergies and autoimmune diseases can be

A.prevented.
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
C.asthma
D.hives
E.osteoarthritis
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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!)
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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?
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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?
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it could be
Heart Disease
or Thyroid Disease

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

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