FAQ - Myasthenic Syndromes, Congenital
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How do I know if I have Congenital Rubella Syndrome?


I do have congenital cataracts, as well as hypothyroid. some other neurological symptoms began 10 years ago that doctors could find no answer to.
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That is an interesting possibility. The source below says that all those things may be associated with congenital rubella syndrome, including the delayed onset of neurological problems. It also gives some contact information if you need more information from the experts. I hope you can finally find out what is going on.  (+ info)

Question about possible syndromes causing congenital heart defects? Any docs or nurses here?


I have a friend who keeps feeling very short of breath after doing really limited physical activity. He is always gasping and mentioning that he can't breathe well, sometimes even when we are just sitting around. Recently he felt so bad that he went to the hospital, where they did an EKG (or is it ECG, I don't know, where they put the sticky things all over you with the wires attached) and told him that it was "abnormal", however, being the typical man he is, he said he felt better and insisted on leaving; he wouldn't let them admit him for further testing. I am worried about him, though, because I've always thought he sort of looks like there is something vaguely wrong with him physically, he has a very odd appearance, and I'm wondering if he has some kind of undiagnosed syndrome that could be causing his appearance AND the worsening heart problems. He's 33 and he doesn't live an unhealthy life, so there is no reason he should be having heart problems. Does this sound like anything anyone has heard of:

- He's extremely tall and thin (6'6 according to him, possibly taller, and only weighs about 150)

- He has very long fingers and feet, and his fingernails are weird, they kind of taper downward

- His ears are like... I don't really know how to explain it, they're like long at the top and slanted back and almost pointy with no ear lobes, I want to say like a bat or something, I know that's horrible but I can't think of another way to describe it!

- He has a very long kind of face, his lips are so thin they're like non-existent, and his eyes slant very slightly upward, maybe like he has a little Asian ancestry, but he's 100% German and blond and blue-eyed and no one in his family seems to have eyes like that.

Do those things along with having what seems to be a pretty bad heart problem at such a young age signify any kind of "syndrome" or anything? I am really scared for him because he is the nicest guy, and I hope he doesn't see this or he'll be mortified, but I do like him a whole lot and I don't want to see him have a heart attack and die at 33!
I mean the diagram on the Google page, sorry. His fingers are just like that. That's crazy.
OMG I just looked it up and the pictures of people who have it, and the diagram of the hand on the Wikipedia page look JUST LIKE HIM. I bet you guys are right. I hope he listens if I tell him about it.
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This sounds A LOT like Marfan syndrome. He should definitely go to the doctor, im not a doctor, but his physical features sound like those of marfan, and his symptoms could be caused by the heart problems connect with marfan. Convince him to go to the doctor as soon as he can.  (+ info)

Why do you never see a wealthy family with a child with a congenital disorder?


I'm not referring to the chinless wonders who appear in the hooray set. No, I'm asking about Downes Syndrome, or with a cleft palate, misshapen limbs that are all present at birth.

Any ideas?
It was a perfectly simple question!
Why did so many of you jump to so many conclusions, i.e., that I'm not well-read, I just don't read trash!
Also, someone assumed I'm American! Yeugh! (I don't mean that, I do have American muchachos!)
Also, I didn't ask why we 'never saw', but 'never see'! Many went into hysterical historical diatribes mainly to do with the in-breeding that was prevalent in the old European royal families - I didn't mention them!
And what the flick's Jordan got to do with anything?
And - ooops - it's Down Syndrome - I stand corrected, but where on earth did you get the idea that I believed only the poor were born with DS?
I asked why you never see such a child born to a wealthy family. I didn't suggest they don't have them. I presume they do!
I just wish to know if, perhaps, they're still hidden away, like the Queen Mother's sister was!
By the way, I just googled 'Down Syndrome', and everything came back as 'Down's syndrome'!
So there! d:-p
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I have come across wealthy people with severely disabled children, such people usually live a more secluded life and therefore their children are not on public view.  (+ info)

What causes congenital cateracts and How dangerous are they?


I had an eye appointment yesterday and the Dr. said I have astigmatism (which I already knew) and he also said it looks like I have a congenital cateract in my left eye. My right eye is fine but he says there is "no correcting the left eye with prescription" He referred me to speacialist but said the probably would not do surgery becasue of my age....? If anyone knows anything about congenital cateracts please let me know!

P.S I'm 20 years old.
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As the eye develops while you are a fetus alot of things have to happen just right for all the components to develop just right. Thankfully, almost always, these things do happen just right. In some cases, though, as the eye is developing one or both eyes may not develop exactly as we would like. When this involves the lens of the eye it many times will cause a congenital cataract. Congenital cataracts, then, are present from birth but because the lens structure is not quite normal many times a congenital cataract will worsen or time. As to how dangerous are they, as long as the lens structure is intact, the lens capsule is intact, and the lens does not begin to sluff tissue as it becomes hyper mature, then the cataract itself is not dangerous. Of course, if it becomes more dense then your vision will continue to become worse. Once you and your doctor decide the time is right for a cataract operation and lens implantation then you should see a dramatic improvement in your vision. Without examining you I really can't be very specific in my recommendations so I think it would be best to ask these questions of your specialist so he can give you his impressions, expectations, and treatment plan. Hope this helped.  (+ info)

What is the difference between CORONARY and CONGENITAL heart disease?


I'm filling out a family health history form for my doctor and it's asking if anyone in my family has had coronary or congenital heart disease. I know my mom has heart disease but I don't know which kind it is. One of the arteries to her heart was becoming blocked and they had to put a stent in that artery to open it back up - it's called angioplasty. Is that coronary or congenital? Thanks.
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Congenital means "from birth." Congenital heart disease is something you are born with, such as a murmur. If her artery is becoming slowly blocked, she does not have congenital disease. Coronary is the build up of plaques inside the artery walls. See attached link :)  (+ info)

What kind of congenital heart research should i do?


I am really in doing congenital heart research in China. I have been working with the China California Heart Watch, a non for profit organization designed to help diagnose, treat, and help aid children with Congenital heart disease get the surgeries they need. I am a student at UCI and plan to apply for a research scholarship, what kind of research could I do which could be done with a 5,000 scholarship?

Thanks!
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i have no idea, only kind of research i know is to find the cause or a cure or prevention for congenital heart disease, or a treatment(new surgeries or medicine to treat it) but there are at least 35 known types, so there may be more then one cure/prevention/cause. I would like to say thank you for helping though, Congenital heart disease doesnt get as much money as it need for research. I really hope one day there is a cure or prevention found for it so kids wont have to go through the same thing as me and my friends.  (+ info)

How is congenital heart disease related to a faulty signal transduction pathway?


I can find plenty of information on congenital heart disease and plenty of information on cell signaling/signal transduction but i cant find out how they are related can anyone help?
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In some cases of congenital heart disease there are physical malformations that can cause electrical signals from one area of the heart to another area to be attenuated or timed incorrectly. The signal transduction pathway may be operating at the cellular level as it should. If the signals received to initiate the complex process are weak or not timed properly the resulting release of glucose to power the heart muscle may not be sufficient to sustain normal heart function. Muscle contractions may be either weak or not timed properly to co-ordinate with other heart muscles. In some cases there may be a lack of sufficient amount of a particular enzyme which may result in the signal transduction pathway within the cell to function improperly. As you may be aware from your research, normal heart function is a very complex process involving a great number of steps which all must take place in proper sequence. The number of steps within the cell alone are very complex. I hope that gives you some insight on the subject.  (+ info)

What's the difference between cretinism and congenital hypothyroidism?


Is congenital hypothyroidism a TYPE of cretinism? Or vice-versa?

I'm doing a research project and I'd appreciate anyone who can help! Thank you in advance!
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Cretinism is caused by extreme hypothyroidism during fetal (congenital), infancy or childhood.
So congenital cretinism is the same as congenital (severe) hypothyroidism.  (+ info)

What is Congenital diverticulum of the bladder?


My 3yr old daughter has been diagnosed with some type of mass pushing on her bladder. Doctors are not sure what it is. I was just wondering what congenital diverticulum of the bladder is.
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They are pouches in the bladder wall that a person is born with (congenital) or later acquires. A congenital bladder diverticulum represents an area of weakness in the bladder wall through which some of the lining of the bladder is forced out. (A small balloon squeezed in a fist will create a diverticular-like effect between the fingers.) Bladder diverticula may be multiple and they often occur at the entrance of the upper urinary system into the bladder (ureterovesical junction). Acquired diverticula are usually related to bladder obstruction, most commonly as a result of benign prostatic hyperplasia  (+ info)

Is Congenital Heart Disease a disease that is associated with aging?


I am doing a project about Congenital Heart Disease for my sophmore Health Academy Focus.....
I need to know if Congenital Heart Disease is associated with aging.....If possilbe can you also give me links on places where I can find more information on the topic.
thank you
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Congenital means it was present at birth. It is not associated with aging, although it may be undetected until adulthood, depending on its severity.  (+ info)

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