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11 Rare Diseases You’ve Never Heard Of
© 2016 Health Realizations, Inc. Update

 

In the United States, a disease is generally considered rare if it occurs in less than 200,000 people. Those who suffer from these so-called “orphan” diseases often go undiagnosed for years, and then are left with little to go on in terms of treatment, known causes and cures.

rare disease

A rare disease typically occurs in less than 200,000 people in the United States.

In honor of Rare Disease Day, which is coordinated by the National Organization for Rare Disorders and is coming up on February 28, 2012, we’re highlighting 10 rare diseases that many people have never heard of, in order to broaden horizons and promote awareness of these conditions.

This is just a small sampling of the nearly 7,000 rare diseases recognized by the National Institutes of Health Office of Rare Diseases Research. To learn more about a particular rare disease, you can visit their site directly.

1. Alkaptonuria

This rare hereditary disorder causes homogentisic acid to accumulate in your body, destroying connective tissue and bone. Symptoms typically begin in a person’s 20s or 30s, and may progress to debilitating bone and joint disease once they reach their 60s to 80s. One telltale sign of this disease is dark-colored urine, which is the result of the homogentisic acid being exposed to air.

2. Bloom Syndrome

Bloom Syndrome is a genetic disorder associated with a high frequency of chromosomal breaks and rearrangements. Those with the disorder have a significantly increased risk of cancer of any organ, and particularly leukemia and lymphoma. The syndrome also causes short stature, increased sensitivity to light, dilated blood vessels on the face, which often resemble a butterfly in shape, and immune deficiency that leads to increased infections.

3. Kohler Disease

This rare bone disease most often impacts children aged 3-7, and impacts boys five times more often than girls. It is thought to be caused by a stress-related compression of the foot during the growth period, and results in pain and swelling of the foot, along with limping. Fortunately, most children grow out of the disorder, and the foot bones typically regain their size, structure and density within one year.

4. Retinoschisis

Retinoschisis is a condition in which the eye’s retina splits into two layers, causing a slow, progressive loss of certain fields of vision. The disorder typically occurs in middle age or after, although it can also be present at birth. It may also be associated with blisters or cysts in the retina.

5. Wilson’s Disease

This genetic disorder occurs because excess copper is stored in the body, particularly in the liver, brain and corneas (eyes). If left untreated, Wilson’s Disease can cause liver disease, central nervous system damage and death, which is why early diagnosis and treatment, aimed at reducing and maintaining copper levels in the body, is very important.

rare disease

The National Institutes of Health Office of Rare Diseases Research recognizes nearly 7,000 rare diseases.

6. Organic Personality Syndrome

Due to a brain dysfunction, people with organic personality syndrome suffer from short- or long-term disturbances in personality. Though they may still be able to reason, remember and learn, the condition impacts judgment severely. Those with the condition often require continual supervision, as if left unattended their lack of judgment could result in dangerous behaviors.

7. Grover’s Disease

This skin disorder occurs when the “cement” that holds skin cells together is lost, causing the cells to separate. This results in small, red blisters, typically on the chest and back. Though the cause of Grover’s disease is unknown, it typically occurs in men over the age of 40 or 50, and is thought to be related to injuries to sun-damaged skin.

8. Gottron Syndrome

This inherited disorder has been documented in only 40 people, and is characterized by premature aging, particularly in the form of fragile, thin skin on the hands and feet. This is caused by the loss of fatty tissue directly under the skin. Gottron Syndrome may also cause abnormally small feet and hands, prominent veins on the chest, small stature and a small jaw, along with premature senility, endocrine disruptions and cataracts later in life.

9. Ciguatera Fish Poisoning

Ciguatera fish poisoning (or ciguatera) occurs in people who have eaten fish that contain toxins produced by a marine microalgae called Gambierdiscus toxicus. More than 400 species of fish have been associated with ciguatera poisoning, including many that are commonly eaten, such as sea bass, snapper and perch. Symptoms include nausea, vomiting and neurologic symptoms, such as tingling fingers and toes. Some people also experience that cold things feel hot, while hot things feel cold. Ciguatera usually goes away in a matter of days or weeks, but some symptoms can last for years.

10. Moebius Syndrome

This developmental disorder is present from birth and involves two cranial nerves that are absent or not fully developed. As a result, those impacted suffer from facial paralysis and are not able to smile or frown. In some cases Moebius Syndrome may also result in other physical problems as well.

11. The Obesity Virus

Studies suggest that an adenovirus call AD-36 may be involved in some cases of obesity. There are more than 50 types of adenoviruses that cause illnesses such as the common cold and gastroenteritis. Typically, the illnesses are not serious and resolve on their own. 

However, research shows that 33 percent of obese adults have contracted AD-36 at some point in their lives, compared to just 11 percent of lean people. Further, in 2007 it was found that AD-36 could turn adult stem cells from fat tissue into fat cells.

According to Nikhil Dhurandhar, of Pennington Biomedical Research Center in Louisiana, the virus likely triggers obesity when it spreads to other parts of your body.


Sources

National Institutes of Health Office of Rare Diseases Research

National Organization for Rare Disorders

CDC: Ciguatera Fish Poisoning


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