I know of someone who has a rare disease called "MELAS SYNDROME" is there any known doctor or treatment

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MELAS syndrome is a rare form of dementia. MELAS is an abbreviation of episodes.
There is no known treatment for the underlying disease, which is progressive and fatal. Patients are managed according to what areas of the body are affected at a particular time. Enzymes, amino acids, antioxidants and vitamins have been used, but there have been no consistent successes reported.

Although there have been no controlled trials on long-term benefits of dietary manipulations. The following supplements have shown promise, and given hope to MELAS patients.

CoQ10 has been helpful for some MELAS patients. Nicotinamide has been used because complex l accepts electrons from NADH and ultimately transfers electrons to CoQ10.
Riboflavin has been reported to improve the function of a patient with complex l deficiency and the 3250T-C mutation.
The administration of L-arginine during the acute and interictal periods may represent a potential new therapy for this syndrome to reduce brain damage due to impaired vasodilation in intracerebral arteries owing to nitric oxide depletion  (+ info)

what is MELAS syndrome? Its Diagnosis and treatment?

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for a child of 10 yrs age. Transient episodes of sudden onset of blindness .muscular weakness.unable to speak clearly. very intelligent.high plasma lactate.
MELAS is an abbreviation that stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes.
Diagnosis-
The diagnosis of MELAS is usually suspected on clinical grounds. However, confirmation of the diagnosis usually requires a muscle or brain biopsy. The muscle biopsy shows characteristic ragged red fibers; a brain biopsy shows stroke-like changes.

I couldn't find any specific treatment for it, sorry.

All the best!  (+ info)

I have a group Called MELAS SYNDROME In support listing How come my group don't show up and how can I make It

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more activity in the group will make it show up on yahoo searches, good luck  (+ info)

has anybody heard of MELAS syndrome?

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we have just found out about it and are interseted in hearing from familys who have same genetic disorder
want to know more about how it is passed down etc
I don't have it, but I do know that when it is a familial disorder, it virtually always passes from mother to children, as it is a mitochondrial disorder, and all cellular organelles come from the mother's egg (the sperm basically supply just the DNA). It can occur sporadically. It is a A3243G mutation in the mitochondrial genetic code. A good resource for the "technical" information. http://www.emedicine.com/ped/topic1406.htm  (+ info)

What is the name of the syndrome that the person may appear to have facial characteristics of down's syndrome?

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I previously watched a documentary about sufferers of a syndrome whose facial features appeared to be down's syndrome but it wasn't down's syndrome. The grow to be quite large adults and have special needs. Does anyone know the name of this condition?
Klinefelter syndrome  (+ info)

Are there different types of Down syndrome and what areas of the body does Down syndrome affect? ?

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Also, are there any significant statistics related to Down syndrome? Has Down syndrome received any recent attention from the media? Are there any famous people that have Down syndrome.
Answer as many of the above questions as possible.
There are three types of Down syndrome, garden variety Trisomy 21, mosaicism and translocation.

Read more at:

Welcoming Babies with Down Syndrome (English, Spanish, French)
http://www.bellaonline.com/articles/art32534.asp

There is a slide show that also incorporates videos of the featured 'More Alike than Different' cast at the National Down Syndrome Congress website:

http://www.ndsccenter.org/morealike/flash/

And great information at the National Down Syndrome Society website:
Down Syndrome Fact Sheet
http://www.ndss.org/index.php?option=com_content&view=category&id=35&Itemid=57

You might also enjoy

Margaret's Guide to Down Syndrome
http://www.patriciaebauer.com/2007/05/12/margarets-guide-to-down-syndrome/

For bios of actors with Down syndrome, see:

Down Syndrome and the Acting Gene
http://www.bellaonline.com/articles/art34198.asp

and

DS in Arts and Media
http://www.dsiam.org/

and

Michael Johnson
http://www.users.psln.com/sharing/Michael/mainMichael.html

and

Sujeet Desai
http://www.sujeet.com

Down Syndrome Links at the Family Village website
http://www.familyvillage.wisc.edu/lib_down.htm

Check out this recent New York Times article:

The DNA Age: Prenatal Test Puts Down Syndrome in Hard Focus
http://www.nytimes.com/2007/05/09/us/09down.html

Have fun with your research!
  (+ info)

What is so bad about having down syndrome?

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I think people are a lot colder than they want you to believe. Too many pregnancies prediagnosed with down syndrome are terminated! Doctors tell people that their kid will be like some animal and people believe them. I've met my share of people with down syndrome, and they all seem pretty human to me. On top of that, they were all decent folks, which is a lot more than I can say for the general population. And how does knowing that unborn children are purged because of down syndrome affect those who were born and have down syndrome?
WOW!! I'm so glad that there are other people who's lives have been touched as mine has. See when I was 28 I gave birth to twin girls and one of them was born with Mosaic down syndrome. Of course, I didn't know much about it til now....and yes I was shocked. They are 14 months old now, and such a blessing as well as my two boys. My daughter is about 4 months behind in her milestones, but she is always so happy! Out of all my kids she is the easiest to handle.

It's always nice to have other people, who see that they are more alike, then different from the rest of us.  (+ info)

What is the syndrome called when you cannot feel physical pain?

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I remember watching a show a long time ago, and this one little girl was born with a syndrome where she could never feel pain. If she fell on the floor and cut her knee, she wouldn't cry, whereas most children would.

What is this called? Is it a syndrome? Is it a medical condition? I just want to know what it's called, and I can do the research on it.

It is for a story I am writing but I don't entirely know what it is.
It's called "congenital insensitivity to pain"  (+ info)

What syndrome would someone have that the doctor would need to put them on bloodthinners?

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My sister is 18 and just moved out here from MN to go to school. She has had many medical problems and been to several doctors. She recently told me that the doctor said there was something wrong with her blood and she needs to be put on blood thinners for the rest of her life. What syndrome could this be?
There are several, but the first that comes to mind is Factor-V (five).  (+ info)

What is the syndrome where boys usually grow more than average?

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I think it is Jacobs syndome.. XYY syndrome.. but wikipedia says that is only a little more than average. what is the only where they get really big ?
Yes it is called gigantism. It is caused by a tumour or either a chromosome disorder. Another thing that causes gigantism is the inability to inhib the GH (growth hormone) when it is produced. This is why the people who have it get very TALL.  (+ info)

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