Tuesday, March 10, 2009

Information On Rare Medical Diseases

For a disease to be defined as rare in the United States, it must afflict fewer than 200,000 people inside the country, according to the National Institutes of Health. For a disease to be considered rare in the European Union, it must afflict fewer than 5 out of every 10,000 people. The National Institutes of Health Office of Rare Diseases estimates that there at least 7,000 different rare disease affecting 25 million people in the United States. Some of the rarest diseases are also unique because of the often bizarre and unusual symptoms associated with them.


Foreign Accent Syndrome


Foreign accent syndrome (FAS) is typically associated with either a stroke or severe brain injury. For reasons that remain a mystery, people with FAS suddenly begin speaking in a foreign accent. As an example, a person raised with a U.S. Southern accent may inexplicably begin speaking with a heavy Irish brogue or a thick Russian accent. The language the person speaks does not change to meet the accent; a native English speaker will continue speaking English, only with a foreign accent.


Kabuki Makeup Syndrome


Kabuki makeup syndrome is a still-unexplained congenital disorder characterized by the distortion of facial features that gives the disease its name. Kabuki is a form of Japanese theater in which the actors wear heavy makeup that gives the facial features a bizarre, elongated appearance. While one of the more well-known features of Kabuki theater is the application of heavy white makeup, a whitening of the skin is not one of the symptoms.


Alien Hand Syndrome


Alien hand syndrome might better be termed Dr. Strangelove syndrome for those familiar with the title character of that film who is unable to stop one of his hands from acting independently of his control. The primary symptom of this rare condition, which usually follows a stroke, brain surgery or serious infection, is one of the sufferer's hands begin to act as though it has a will of its own. Often the person actually comes to believe that the hand is an entirely separate entity that cannot be controlled.


Jumping Frenchman of Maine Disorder


This rare condition remains so mysterious that scientists are still not sure whether it is physiological or psychological in origin. The origin of the odd name comes from French-Canadian lumberjacks in Maine who would respond to loud noises with extreme reactions. Symptoms of the disorder mirror this reaction, with those affected by the disease screaming out in terror, hopping into the air and even unintentionally hitting people situated nearby.


Maple Syrup Urine Disease


A much more serious condition than it may sound, maple syrup urine disease is actually an inherited condition caused by the body's inability to process certain amino acids. The symptoms are not just urine that has a sweet maple smell but also sweat. This disease typically begins during infancy and can also include vomiting and fatigue. Left untreated, it can eventually lead to comas and even death.


Capgras Delusion Syndrome


This is a very strange syndrome in which a person comes to believe that an acquaintance, usually a close friend or family member, has been replaced by a lookalike. Because Capgras is associated mostly with schizophrenia, dementia and brain injury, some scientists believe it should be defined as a symptom rather than a syndrome in itself. Capgras delusion syndrome was the inspiration for "Invasion of the Body Snatchers," the popular book that had subsequent film versions.


Rare Disease Day








Rare Disease Day is held the last day in February to raise awareness about all the many rare diseases that exist. Research into rare diseases tends to be underfunded, or at least less well funded than research for diseases that affect larger percentages of the population. Rare Disease Day was first celebrated in Europe and Canada in 2008. The first observance of the day in America took place on February 28, 2009.

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