Let's say you have a collection of baffling physical symptoms. You know something is very wrong with your body, but no one seems to be able to figure out what it is or what's causing it. And even if they do, they can't figure out how to treat it -- or the treatment means that you have to change your entire life in order to live normally again, or as close to it as you can get.
For people with rare or little-understood medical conditions, this frustrating scenario is generally how their doctor visits play out. And it can be very lonely -- there may only be a few dozen people in the entire world who have the same condition.
We've known about some medical conditions for centuries, even if we didn't have a name for them. Others have only recently come to our attention. Either way, the 10 medical conditions we're about to discuss are so bizarre that doctors, researchers and the people who live with them continue to work not only toward a cure, but toward a greater understanding of what the condition even is.
Foreign Accent Syndrome
After surviving a stroke or event that results in traumatic brain injury, a very small number of people find themselves on the other side of the event speaking with a strong foreign accent. While it sounds made-up, foreign accent syndrome (FAS) is very real.
FAS is caused by damage to portions of the brain that affect speech and the coordination of the muscles used when speaking. The damage changes the way a person pronounces vowels and consonants, shifts speech rhythm and positions the tongue differently during speech. It wouldn't make you bilingual, but it would affect your speech to a degree that it sounds like that of a different country, or a region within your own country.
One misperception of this bizarre medical condition is that the affected person speaks in a different language or in a specific accent. It's not so much that you've adopted an accent, but rather that you've been forced to produce speech that sounds very similar to a pre-existing dialect. A person with FAS may seem to speak with traces of several different accents, and listeners may pick out the accent they're most familiar with. While no known cure exists, speech therapy produces some improvements for those with FAS.
If salt consumption, resting after exercise and even sudden noises trigger extreme weakness in your muscles or near-total (but temporary) paralysis, a genetic condition called periodic paralysis might be to blame. Fortunately, only about 1 in 100,000 people know the feeling.
It's caused by faulty ion channels in the walls of nerve cells. Potassium isn't able to properly pass through the channels that would allow it to cross through the cell wall when the muscle cell gets the "Go!" message from the brain. The muscles can't contract, and the body feels weak. (There are different types of periodic paralysis and, depending on which type a person has, potassium levels may be too high or too low in the cell.)
When an attack is about to occur, a person with this condition feels weakness or heaviness in the legs. Sometimes, small, random muscles are affected; other times, his or her arms and legs become immobilized. The incident may last for a few hours, or as long as a few days. By quickly beginning to exercise, a full attack may be prevented, but there is no cure. Dietary restrictions and avoiding excessive exercise or fasting are common treatments.
Though muscles will operate at full strength between attacks, years of periodic paralysis can permanently diminish muscle strength.
Some diseases are easier to diagnose than others. Take hypertrichosis, for example, which might be diagnosed the second the person enters a doctor's waiting room. How? The hair growing out of his or her cheeks, forehead or hands.
Hypertrichosis is the overproduction of hair anywhere on the body. Men and women, babies and adults -- the condition doesn't discriminate. There are variations of the disorder, some resulting in hair growth patterns that likely contributed to ancient "wolfman" folklore. (In fact, in the past, people with hypertrichosis were often featured in carnival sideshows.) Some people are affected head to toe, while others may only experience unusual hair growth on isolated parts of their bodies.
When present at birth, it's the result of the fine, soft hair that covers a fetus continuing to grow, instead of shedding before birth as it normally does. But more often, it develops as a result of some factor other than genetics, such as the body reacting to certain medications or anabolic steroids. Some diseases and conditions, such as advanced-stage HIV or a hormone imbalance, can also result in the unusual hair-growth patterns of hypertrichosis. Underlying causes can usually be treated, and as for the hair, there are the same options we all use to get rid of unwanted hair: shaving, waxing and electrolysis.
Mosquitoes have a long tradition of infecting humans with horrible diseases -- old classics like malaria and encephalitis, as well as relative newcomers, like West Nile virus. Another increasingly common and crippling gift from the mosquito to mankind is lymphatic filariasis, more commonly known as elephantiasis.
Though not common in the United States, it's far from unknown around the tropical and sub-tropical world: About 120 million people have been infected by the parasite that causes elephantiasis [source: World Health Organization]. As its name suggests, elephantiasis infection can result in the painful enlargement of a limb, the genitals or the breasts.
When mosquitoes bite an infected person, they pick up the tiny parasitic worm responsible for infection and pass it along to other humans over the next one to three weeks. These worms make the lymphatic system their home, lodging themselves among the lymph nodes and vessels. Over the next five years or so (during which time no outward symptoms may develop), these filarial worms multiply until millions of them infect the body. The real damage caused, regardless of whether or not there is external enlargement of your body parts, is to the kidneys and lymphatic system.
Swollen body parts can be treated largely through careful cleaning -- it reduces infection that has gone unchecked by the compromised lymphatic system. Anti-parasitic drugs can eliminate the adult worms responsible for the ongoing infection.
Frégoli syndrome leads a person to believe that people he or she knows have adopted a different appearance and assumed the bodies of total strangers. But other than the complete change in appearance (and possibly gender or ethnicity), the personality and identity of the acquaintance is perceived exactly the same as always. In some cases, patients believe the person's shape has shifted (or is still shifting), while in other cases, the patient may believe the loved one's identity or personality has been replicated and inserted into another physical shell.
If you had Frégoli syndrome, you might go to the post office and be surprised to learn that your mother had taken the form of the postal worker behind the counter. Even worse, as you exit the building, you would realize your mother has changed form again, and is now the man exiting the car parked next to your own. As you summon the police to report this, you would be dismayed to realize the two officers who show up to take your report are in fact your mother and your childhood neighbor.
When Frégoli syndrome does occur, it's often experienced by people with a history of stroke, head injuries, seizures or Alzheimer's disease. Treatment, which normally results in some improvement, often includes antidepressants and antipsychotics.
Cotard's syndrome is a rare psychological disorder that leads people to believe they are truly zombielike creatures -- soulless, dead inside, and moving about in an otherwise lifeless body in a world that doesn't exist. People experiencing Cotard's syndrome aren't dissuaded by their ability to walk and talk and move their "dead" limbs -- their certainty, born of a peculiar but unshakeable belief, needs no proof. Regardless of what a physical exam turns up, the patient continues to insist his or her insides are simply not alive anymore.
The disorder was first noted in 1880, and its features haven't changed since then. People experiencing extreme clinical depression are most likely to have Cotard's syndrome, regardless of gender (though odds of suffering this delusion seem to increase with age).
Interestingly, this delusion doesn't affect the way people speak, dress, walk or behave. Their cognitive functioning seems fine; it's just that, according to them, portions of their insides have died off or their life altogether has already ended. They can drive themselves to their doctor's appointment, despite their chief complaint: Their arms are missing, their legs are lifeless flesh, their torso's been hollowed out, the universe is a mirage and their heart's long since stopped beating. Auditory hallucinations are sometimes present, as are other signs of schizophrenia. Antidepressants, antipsychotics and electroshock therapy used independently or in combination often reduce or eliminate the symptoms.
Persistent Sexual Arousal Syndrome
While persistent sexual arousal syndrome sounds like a schoolboy's fantasy, this bizarre medical condition is more of a nightmare to the women who have it.
These spontaneous, unwelcome bouts of female sexual arousal -- with genitals that experience seemingly endless sensations of tingling, pulsing and throbbing -- is only at times lessened by orgasm, and orgasms are just as likely to make the ongoing sensation worse.
The sensation can last for hours, and begin again just moments after seemingly having gone away. Women with this condition may have orgasms as often as every 30 seconds, and these cycles may last for hours on end. The constant heightened stimulation of the clitoris becomes painful.
PSAS and its symptoms exist independent of sexual interest or desire. It's not nymphomania, an excessive desire for sex. Researchers aren't sure what causes it or how to make it stop. The women with the disorder describe it as torturous, and must spend their nights unable to sleep and their days avoiding contact with anything -- a slightly vibrating car seat, for instance -- that might trigger the symptoms. Masturbation offers no lasting relief. Since constantly trying to relieve the sensation negates any type of normal day-to-day life, most women with PSAS wait it out as long as they can before trying to relieve the sensation, and many also try to avoid sexual or affectionate contact with others altogether.
While many medical conditions are defined by one dominant malady, this bizarre medical condition features a whole bouquet of peculiar symptoms.
Klippel-Trenaunay syndrome(KTS) is a mysterious medical condition that has three main effects: a port-wine stain that forms on the skin, varicose veins, and enlargement of a limb or other body part. Sometimes, a portion of a person's torso or a single buttock is enlarged; other times, fingers on one hand are over- (or under-) sized, or the person's entire head is larger or smaller than usual.
It's not known what causes KTS syndrome. It's not even clear if it's a genetic condition, although some evidence does seem to indicate that KTS may run in families. One theory is that KTS is the result of abnormalities that occur in developing blood vessels. Another theory is that it's the result of abnormal pressures on the fetus in the womb, causing an increase in blood flow to certain areas and a decrease in others. The truth is that not much is understood about this bizarre medical condition.
The good news is that most people who are born with KTS are able to live normal lives, as long as personal mobility isn't greatly affected by the difference in leg length (the most common limb affected). However, in some cases, ulcers, infections or complications from misshaped veins do result in pain and necessitate increased medical attention.
While scientists, researchers and capitalists search for the secrets of longevity, the answer may be found in the cure to one rare but heartbreaking disease that results in premature aging and death among children: Hutchinson-Gilford progeria syndrome, known also as progeria.
Children born with progeria look like perfectly healthy babies in the first year of life. However, by the time they turn 2, most children with this unusual condition begin to show signs of advanced aging.
Not only do the toddlers begin to look exactly like elderly adults, with thinning hair and wrinkled faces, they also begin to suffer from age-related diseases and infirmities: hardening of the arteries, loss of body fat, age spots on the skin, achy joints and bad hips. Kids with progeria share with seniors the same rates of cardiovascular disease and risk of stroke.
Though they may live as long as 21, the average age of death is only 13. The usual cause? The same one that kills most seniors: heart disease.
Progeria occurs when a genetic defect occurs in a certain protein (Lamin A) that's responsible for the structural integrity of a cell's nucleus.
First documented (in modern times, at least) in 1886 in England, progeria still has no cure, and a related form of the disease known as adult progeria can first present symptoms in people by the time they turn 20, though they're often able to live well into their 40s and even 50s.
Want more on bizarre medical conditions? We've got links on the next page.
HowStuffworks looks at the symptoms and treatment of scurvy and why it was so associated with sailors and pirates.
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- Berczuk, Carol; Quinones, John. "Medical Mystery: Persistent Sexual Arousal Syndrome." ABC News. Feb. 21, 2008.http://abcnews.go.com/Health/WaterCooler/story?id=3676562&page=1
- Berrios, G.E.; Luque, R. "Cotard's syndrome: analysis of 100 cases." Acta Psychiatrica Scandinavica. Mar. 1995.http://www.ncbi.nlm.nih.gov/pubmed/7625193?dopt=Abstract
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- Janniger, Camila K., MD."Klippel-Trenaunay-Weber Syndrome." Mar. 17, 2010. (July 1, 2010)http://emedicine.medscape.com/article/1084257-overview
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- Levinbook, Wendy S., MD. "Hair Disorders: Hirsutism and Hypertrichosis." August 2008. http://www.merck.com/mmhe/sec18/ch207/ch207b.html
- Mayo Foundation for Medical Research and Education. "Morgellons disease: Managing a mysterious skin condition." Feb. 12, 2010. (July 1, 2010)http://www.mayoclinic.com/health/morgellons-disease/sn00043
- Mojtabai, R. "Fregoli syndrome." The Australian and New Zealand Journal of Psychiatry. Sep. 1994.http://www.ncbi.nlm.nih.gov/pubmed/7893241
- Morgellons Research Foundation. (July 1, 2010)http://www.morgellons.org/
- New Zealand Dermatological Society Incorporated. "Hypertrichosis." June 15, 2009. (July 1, 2010)http://dermnetnz.org/hair-nails-sweat/hypertrichosis.html
- Periodic Paralysis Association. (July 1, 2010)http://www.periodicparalysis.org/english/view.asp?x=1
- Perlstein, David, MD, FAAP. "Klippel-Trènaunay-Weber Syndrome (KTW)." Aug. 12, 2008. (July 1, 2010) http://www.medicinenet.com/klippel-trenaunay-weber_syndrome/article.htm
- Progeria Research Foundation. (July 1, 2010)http://www.progeriaresearch.org/
- PSAS Support. (July 1, 2010)http://www.psas-support.com/main/
- Speech Production Lab, University of Texas at Dallas. "Foreign Accent Syndrome (FAS) Support." (July 1, 2010)http://www.utdallas.edu/research/FAS/about-us/
- Wani, Zaid A. "Cotard's syndrome and delayed diagnosis in Kashmir, India." International Journal of Mental Health Systems. Jan. 11, 2008.|http://www.ijmhs.com/content/2/1/1
- World Health Organization. "Lymphatic filariasis." Sep. 2000. (July 1, 2010) http://www.who.int/mediacentre/factsheets/fs102/en/