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Rare Diseases and Disorders


Question

What is the meaning of Down Syndrome? What causes it and is it harmful?

devila94 (Female, 18)

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Down’s syndrome is a genetic disorder (trisomy for chromosome 21) that is usually diagnosed at birth on the basis of typical facial features, hypotonia and single palmar crease. Several serious problems may develop early in childhood including duodenal atresia, congenital heart disease and leukemia. Intelligence varies across a wide spectrum. The risk of bearing a child with Down’s syndrome increases exponentially with the age of the mother at conception and begins a marked rise after age 35. By age 45 years, a mother has one chance in 40 of having an affected child. There is virtually no risk of trisomy associated with an increasing paternal age.



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Additional info:

A child with Down syndrome manifests the following signs and symptoms:

* Flattened facial features
* Protruding tongue
* Small head
* Upward slanting eyes, unusual for the child's ethnic group
* Unusually shaped ears
* Poor muscle tone
* Broad, short hands with a single crease in the palm
* Relatively short fingers
* Excessive flexibility

There is no proven or accepted prevention methods that you will not have a child with down syndrome but if you have a high risk of having one and you already have a child with Down syndrome, you might as well consult a genetic counselor before you plan to have a baby.


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Additional info:

The incidence of babies suffering from Down syndrome would be most likely lessened by making sure that all pregnant women have their proper prenatal visits to their respective doctors. In line with this, all pregnant women must stay healthy in order not to acquire infections.

She should eat proper diet, have an adequate rest and sleep and drink her vitamins such as folic acid. Nowadays, there are also test done to determine whether a baby have or at risk of having congenital defect.

Disclaimer: Replies and Comments are provided by individuals and reflect their personal opinions only. Under NO circumstances should you act on the opinions or information posted on this page. ALWAYS check with your personal physician or health care provider before taking any action regarding your health! MDinfo and our sponsors, partners, and affiliates have no obligation to monitor any replies or comments posted on this site, or the content and/or accuracy of such exchanges. MDinfo does not endorse the views of any user of this site.

5min Life Videopedia







Heart Disease

BACKGROUND

The heart is a muscle that acts as a pump to send blood around your body. When it either gets damaged by heart attacks or infections (cardiomyopathy), has a malfunctioning heart valve, or grows too big (e.g., from long standing and untreated high blood pressure), it may no longer be able to pump blood effectively. Improving the efficiency of the heart muscle can be helpful for most heart problems that are severe enough to cause symptoms (e.g., chest pain, shortness of breath, swelling in your ankles that persists when you wake in the morning — mild swelling at night is common even in healthy people).

TREATMENT

Treating the underlying high blood pressure, valve problem, or angina may also be important. Heart valve surgery is rarely recommended unnecessarily, and cardiologists are very good with this issue. Follow your physician’s advice for lowering blood pressure as well.

Fortunately, natural remedies do an excellent job at improving heart muscle efficiency, and even modest improvements can improve function dramatically. The following recipe can help anyone with heart disease (unless they have associated kidney failure, in which case the magnesium part of the treatment should be monitored by their physician).

Take these nutrients for 6 weeks to see the optimal effects. The benefits for heart health are often dramatic! Most people choose to stay on them, though they can often lower the dose.

Recommended Supplements

Ribose

Ribose powder looks and tastes like sugar and is a key to energy production in the body — including the heart. I recommend 1 scoop (5 gms) 3 times a day for 6 weeks, then twice a day. This nutrient is outstanding for heart disease and is the most important one. You will likely be amazed after 6 weeks on it!

Coenzyme Q10

Coenzyme Q10 (use Enzymatic Therapy or Vitaline brand chewable wafers — brand and form are critical for this nutrient). Take 400 mg/day for 6 weeks, then 200 mg/day. This nutrient is especially critical for anyone on cholesterol lowering medications, even if there is no heart problem, as these medications cause Coenzyme Q10 deficiency, and this nutrient is critical for energy production.

Magnesium

Magnesium 200 mg/day and B Complex 50+ mg/day. You can typically find these in a good multi-nutrient powder. Take as directed daily, but if it causes gas or loose stools, decrease the powder to 1/2 dose a day. Magnesium not only increases your heart muscles strength, but also markedly decreases the tendency to abnormal heart rhythms.

Acetyl-L-Carnitine

Acetyl-L-Carnitine 500 mg 3 times a day for 6 weeks, then 500 mg/day is enough (and it can often simply be stopped).

Related Information

D-Ribose — A Very Powerful and Natural Body Energizer

Coenzyme Q10

Acetyl-L-Carnitine for CFS and Fibromyalgia

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Clinical Trials


Clinical trials within 150 miles of United States.


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National Institutes of Health Clinical Center, 9000 Rockville Pike - Bethesda, Maryland


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