Jumping frenchman disorder: weird reflexes

As part of the survival instinct, most animals (including humans) react to sudden, unexpected stimuli with a startle reaction, which includes reflexive movement away from the stimulus and a contraction of the muscles in the limbs. It also causes changes in blood pressure, respiration, and breathing. In a normal individual, the muscular reaction subsides within a couple seconds if no real threat is detected, but for a sufferer of the Jumping Frenchman of Maine Disorder, an unexpected stimulus results in a somewhat different experience.

An individual with this disorder has a genetic mutation that prevents “exciting” signals in the nervous system from being regulated, which causes a number of bizarre irregularities in their startle response. Most notably, an event which might startle a normal person will result in an extended, grossly exaggerated response from a “jumper,” including crying out, flailing limbs, twitching, and sometimes convulsions. Because a jumper is almost immediately susceptible to another jump soon after an episode ends, there have been reports that sufferers are sometimes teased mercilessly by people who find the reaction amusing, and trigger it repeatedly.

Another curious abnormality caused by this disorder is a sufferer’s automatic reflex to obey any order that is delivered suddenly. For example, if one uses a sharp, quick voice to order a jumper to throw the object in their hands, they will throw it without hesitation; if they are similarly told to strike a person, they will strike that person, even if it is a loved one. Very often, if an individual with this disorder hears a phrase that is unfamiliar or spoken in a loud voice, they will uncontrollably repeat that phrase back, a phenomenon known as echolalia.

The Jumping Frenchman of Maine Disorder was first described by G. M. Beard in 1878 after observing the effect in French-Canadian lumberjacks in the Moosehead Lake area of Maine:
“One of the jumpers while sitting in his chair with a knife in his hand was told to throw it, and he threw it quickly, so that it struck in a beam opposite; at the same time he repeated the order to throw it…. When the commands are uttered in a quick loud voice the jumper repeats the order. When told to strike, he strikes, when told to throw it, he throws it, whatever he has in his hands…. all of these phenomena were indeed but parts of the general condition known as, jumping. It was not necessary that the sound should come from a human being: any sudden or unexpected noise, as the explosion of a gun or pistol, the falling of a window, or the slamming of the door, provided it be unexpected and loud enough, would cause the jumpers to exhibit some one or all of these phenomena….” (Beard, 1880a, pp. 487-490)

This highly unusual disorder has also been observed in a few other parts of the world, including Siberia and Malaysia. Jumping Frenchman is a form of Hyperexplexia, a more generic term descriptive of any exaggerated startle response. Jumping Frenchman bears similarities to Stiff Baby Syndrome, a condition where a person has an exaggerated startle response from the time they are born, and a tendency as a young child to occasionally stiffen their whole body in response to surprise stimuli. This causes the child to fall to the floor like a log when surprised, not unlike fainting goats. Jumping Frenchman and Stiff Baby are so similar that they are thought by many to be the same disorder. When Beard first described Jumping Frenchman in 1878, Dr. Gilles de la Tourette attempted to have it classified as part of the syndrome which bore his name, but this notion was rejected due to the distinct differences between Tourette Syndrome and Jumping Frenchman.

Most evidence seems to indicate that hyperexplexia is caused by a genetic mutation which prevents neurons from receiving the amino acid glycine. Glycine in an inhibitory neurotransmitter common in the spinal cord, and it prevents the central nervous system from overreacting to stimuli. The poison strychnine also inhibits glycine reception, and the symptoms it causes are very similar to hyperexplexia.

Walking Corpse Syndrome: they believe to have died

Zombies are one of the true representatives of the horror genre. Why zombies are so frightening is a matter of psychology — we feel uncomfortable around objects that feel familiar and foreign at the same time. They seem so human, yet they have an unsettlingly different anatomy. Fortunately for the human race, zombies do not actually exist. However, a medical condition exists that causes people to think they have turned into zombies. This is a mental disorder called Cotard’s Syndrome, or Walking Corpse Syndrome. Discovered by French neurologist Jules Cotard, who had a patient with the condition, it was first described in 1880 as a syndrome that eventually made the patient deny their sense of self.
Symptoms of this mental disorder vary between individuals, but share the common trait of being bizarre. Sometimes, patients think they have died or lost their soul; other patients deny the existence of their body parts, from limbs to organs inside the body. Some patients think that they do not have blood. The inability to recognize the body is an extremely dangerous condition, as no care will be given to it.
According to an article on www.associatedcontent.com, one patient starved himself because he did not think he had a stomach. The original patient studied by Cotard started to think she did not have to eat, and believed she could never die naturally. Another article on www.healthdoc.info, describes a case in which another patient, in 1996, thought he died of either AIDS, yellow fever, or septicemia, a disease where pathogens are present in the blood stream. In addition, he thought his soul was taking a trip in hell, while his physical body was asleep elsewhere.

People are not born with disease, but rather acquire it through some mental illness or physical injury. Different parts of the brain control the way a person perceives the world, and when these parts are injured, perception can be altered. Walking Corpse Syndrome is thought to be related to depression, schizophrenia, and derealization, a condition in which the world, or one’s self, feels unreal.
Head trauma, like in a case in which a motorcycle accident caused this disorder, can be the cause of an altered perception as well. Cortard’s Syndrome is also believed to be related to Capgras Syndrome, a disorder that causes one to believe a person, usually a family member or close friend, has been replaced by an impostor.
According to www.psychnet-uk.com, Capgras Syndrome results when the brain does not consciously recognize faces. Similarly, Cortard’s Syndrome may result when a person sees his own face or body but is unable to recognize it as himself. Therefore, the brain perceives the individual as someone else, resulting in a belief that the true self is nonexistent.
This disorder presents itself subconsciously — just as we know we are alive and recognize ourselves, people who suffer from this syndrome act as if they truly believe their body does not exist.
Because of the rarity of the disorder, effective treatment is not known. Antidepressant drugs do not seem to have much effect on individuals with the disorder. However, electroconvulsive therapy has been shown to be effective in certain cases, curing patients of the disorder.

Electroconvulsive therapy involves inducing a seizure in a certain area of the brain, causing a person to lose consciousness and convulse for 15 seconds. The mechanisms of electroconvulsive therapy are still not known, but it has shown to be effective for treating many mental illnesses, including depression, bipolar disorder, and schizophrenia.

This disease is still mostly unheard of and not well-understood; treatments are still largely experimental. However, for the select few who are affected by this disorder, what we do know will help them live a normal life.

Blaschko's lines: strange stripes all over the body

“One of the subjects developmental biologists are interested in is the development of pattern. There are the obvious externally visible patterns , the stripes of a zebra, leopard spots, the ordered ranks of your teeth, etc., etc., etc. And in fact, just about everything about most multicellular organisms is about pattern. Without it, you’d be an amorphous blob.

But there are also invisible patterns that you don’t normally see that are aspects of the process of assembly, the little seams and welds where disparate pieces of the organism are stitched together during development. The best known ones are compartment boundaries in insects. A fly’s wing, for instance, has a normally undetectable line running across the middle of it, a line that cells respect. A cell born on the front half of the wing will multiply and expand its progeny to cover a patch on the surface, but none of its offspring cells will cross over the invisible line into the back half. Similarly, cells born on the back half will never wander into the front.

So you might be wondering if we have anything similar in humans and no, we don’t have strict compartment boundaries like a fly. However, we do have normally invisible lines and stripes of subtle molecular differences running across our bodies, which are occasionally exposed by human mosaicism. These are marks called the lines of Blaschko, after the investigator who first reported a common set of patterns in patients with dermatological disorders in 1901.

Don’t rip off your shirt and start looking for the Blaschko lines, they’re almost always invisible, remember! What happens is that sometimes people with visible dermatological problems — rashes, peculiar pigmentation, swathes of moles, that sort of thing, express the problems in a stereotypically patterned way. On the back, there are V-shaped patterns; on the abdomen and chest, S-shaped swirls; and on the limbs, longitudinal streaks.”

Alice in Wonderland syndrome: time, space and body image are distorted

 Alice in Wonderland Syndrome

According to the Migraine Aura Foundation, the syndrome refers to "a variety of self-experienced body image disturbances affecting the experience of the size, mass, shape of the body or its position in space."

Sometimes the affected person experiences a feeling of everything around them being much larger and they themselves feel smaller (macropsia) or vice versa - where they feel very large and everything around them seems very small (micropsia). These perceptions are also known as macro-somatognosia or micro-somatognosia.

These symptoms can appear along with other distortions, in time, vision, or other senses (including smell, which would explain the odor my friend experienced).

Sufferers may also see changes in the size of body parts such as their hands.

Following is a full list of possible additional symptoms:

"- feeling as if walking doesn't get them anywhere, as if they were walking on a treadmill
- the perception that only parts of their body are larger/smaller than normal
- - the feeling of walking on sponges
lingering touch sensation, i.e. after you've touched something, you continue to feel it after you've stopped touching it. Touch sensation hallucinations can also occur.
- lingering sound sensation, i.e. you continue hearing something after the noise has stopped
- anxiety
- loss of limb control and general discoordination, usually because of distorted perceptions of where one's body is in relation to surroundings
- agnosia / memory loss (though this is thought to be more of a side-effect: If you're having to think really hard about every movement, it's hard to pay attention to anything else and thus hard to remember things.)"

Alice in Wonderland Syndrome can be caused by/associated with:

- Migraines (the symptoms of AIWS may be part of the "aura" that precedes a migraine; often no headache is actually experienced).
- Certain drugs (including cough syrups containing dextromethorphan)
- Viruses (Epstein-Barr, which causes Mononucleosis, or other viruses)
- Epilepsy
- Brain tumors
- Schizophrenia
- Delirium Tremens (from alcohol abuse)

 Treatments

Generally there is no specific treatment for AIWS; the root cause is what must be treated. For the most common cause, migraines, there are a number of remedies, as well as dietary restrictions that can help mitigate the symptoms. See this link to the Mayo Clinic for full information about migraine headaches.

For more information on treatment for epilepsy, see this link to Epilepsy.com.

Often the syndrome occurs in young children and eventually they may outgrow it. Others don't experience it until adulthood.


Probably not, unless you are a migraine sufferer. According to Pediatrics in Review:

"In the US it is estimated that 8.7 million females and 2.6 million males suffer from disabling migraine. The occurrence of migraine is greatest in adulthood, but this disorder is one of the most common causes of headache in children as well. In a 14-year longitudinal study of more than 9000 school children, Billie reported that 5% had had migraine attacks by 15 years of age.

A recent population-based study in Olmsted County, Minnesota, suggests an even greater incidence in this age range. For example, the highest incidence of newly diagnosed migraine headaches appearing in males, 246 per 100 000 person-years, occurred in those aged 10 to 14 years."

Vampire Disease: pain from the sun

                                                   Porphyria:


A rare hereditary blood disease, which causes the inability of the body to reproduce heme, the
component of hemoglobin, which is the major component or red blood. Lack of heme causes a porphyriac to experience blood cravings, causing the sufferer of this disease to attack people or animals for their blood in desparate attempt to replace the heme their body could not generate. A driven porphyriac would do this without knowing why he/she had done it.

Porphyria causes skin sensativity to sunlight forcing the sufferer to come out only at night. Garlic, which stimulates heme production in healthy people, contains a chemical that worses then painful symptoms of porphyria. The porphyria sufferer would avoid contact with garlic becaused it caused pain, not because he/she was a Vampire.

More severe symptoms caused by this disease are sores and scars on the skin, exessive hariness, the tightening and stretching of the gums and lips causing teeth to appear fang-like. Aslo, in more severe cases, fingers and nose would sometimes fall off. Bloody sores around the mouth caused by stretching and tightening of the lips may give the appearance of a bloody mouthed Vampire that had recently fed from a victim.






This hereditary disease was more likely to occur in earlier times when travel was less common and inbreeding was more common, and their hereditary factor played a larger role. In some cases relatives may have been bitten for their blood simply because they were handy when the porphyria sufferer needed and immediate supply. These donors might later show the same porphyria symptoms and seem to have become Vampires themselves as the result of having been bitten by one. The truth is that they had already aquired the disease at birth, since the disease is hereditary. In this occurance of the disease many members of the community may have developed the belief in the transformation of become a Vampire in a certain village or community where the disease was more common.

Pica: the urge to eat non-food substances

Pica is a relatively rare and commonly misunderstood disorder in which individuals persistently crave – and feel compelled to eat – non-food items such as glue, leaves, or soil. The substances upon which pica-afflicted individual focus their attention tend to vary depending upon the age of the patient – for example, children may be drawn toward sand, gravel, glue, or animal droppings, while adult sufferers may become fixated on eating substances such as laundry detergent, soil, and clay. 

Some experts believe that pica-related cravings for non-food items may result from vitamin or mineral deficiencies – thought these same experts are usually quick to point out that the ingestion of non-food items can lead to severe (even deadly) medical conditions. Because the substances that pica sufferers ingest are not easily digested, used, or passed through the body, the health consequences of this condition include poisoning, obstruction of the intestines, perforation of the intestines, and infection.
Pica can affect individuals of all ages and both genders, but the disorder is most commonly found in young children and pregnant women.

Sometimes the behaviour is linked to certain mineral deficiencies, such as iron or zinc, which the body craves from other sources. The disorder is also linked to people who have psychiatric disturbances such as hysteria, people with developmental disabilities or similar impairments, people whose family or ethnic customs include eating certain non-food substances, families with a history of this behaviour, people who live in atmospheres of little support and love or who come from a poor family, and people who diet, become hungry and then try to disregard their appetite by eating low-calorie and non-food substances.

Children can develop Pica, statistically 10-20% before adulthood, but almost all of them outgrow it. They sometimes imitate household pets like cats and dogs, who chew on all sorts of domestic objects. It can be fairly harmless unless the craved substances are toxic or contaminated, which can cause intestinal infections and parasites, malnutrition, poisoning, abdominal pains and dental injury. It is, therefore, necessary to seek a medical evaluation to be diagnosed and treated promptly.

Some substances that people with Pica commonly crave are:

• chalk
• dirt or clay
• plaster
• paint chips
• baking soda
• corn or laundry starch
• glue
• rust
• ice
• coffee grounds
• cigarette ashes or burnt match heads

Symptoms of Pica

The primary indication that a person is suffering from pica is that that person feels an urge to eat non-food items.

Causes of Pica

As with all types of eating disorders, experts have been unable to identify a direct cause of pica – though (as is also the case with other related disorders) it is believed to result from a range of internal and external factors.
The following influences have been associated with a greater likelihood that a person will exhibit symptoms of pica: neglect or lack of parental supervision during early childhood, emotional deprivation, anemia, developmental delays, and poverty.
Treatment of Pica

Therapy is the primary mode of treatment for pica patients. By addressing emotional disorders that may have caused, exacerbated, or been made worse by a patient’s pica, therapists can help to alleviate related pressures and prevent the development of additional conditions. Depending upon the nature and severity of the condition, a patient’s progress may be enhanced by individual, group, family, or marital counseling.

Blue Skin Disorder: the blue people

Kentucky, human skin is generally olivaceous, brown, or dark. But one family in Kentucky have blue skin for a blood disorder called methemoglobinemia, earning the nickname “Blue People of Kentucky ‘.
National Institutes of Health reported no data or how many people are experiencing methemoglobinemia, but the most famous incident was the Blue People of Kentucky and Lurgan family from Ireland. As quoted from eHow, actually the nickname ‘The Blue People of Kentucky’ derived from the Fugate family who lived in Hazard, Kentucky.
During the 1800s, Martin Fugate who married a blue-skinned member of the Smith family who also carry the recessive gene. This caused Smith to be carrying the gene family methemoglobinemia and lowering blood disorders are on the next descendants.
Fugate and the Smith family lived in the area and continue to produce children and further descendants of blue-skinned. From the latest documentation, these cases occurred until the 1970s.
‘Blue People of Kentucky’ was first diagnosed with methemoglobinemia in 1960 by a hematologis, Dr. Madison Cawein.
According to folklore, Fugate experienced blue skin occurs because of heart disease or lung problems. However, examination of Dr. Martin Fugate Cawein find descendants in good health, and he suspected methmoglobinemia form of derivative.
According to Dr. Scott’s research in the Journal of Clinical Investigation, which examined methmoglobinemia Eskimos in Alaska, methmoglobinemia occurred because the loss of enzyme in red blood cells.
The absence of an important enzyme called this diaphorase, allowing components deoxygenated red blood cells (the process of reduction of dissolved oxygen) to develop inside the body, thus giving a blue bandage visible on the skin surface.
Methmoglobinemia Fugates case is genetic, recessive genes derived from both parents, causing chaos in the offspring. Besides genetics, methmoglobinemia also can be caused by exposure to chemicals, antibiotics and anesthesia.

Methmoglobinemia symptoms may include blue skin, shortness of breath, fatigue, dizziness, and fainting. More extreme cases can cause cardiac arrhythmia, convulsions, coma and even death. However, the ‘Blue People of Kentucky’ can survive longer and healthier.

According to Dr Cawein, methmoglobenemia can be treated with methylene blue, which causes the body to compensate for lack of diaphorase. These medications are excreted through urine, so drug methylene blue is required every day to maintain a normal skin color.

Werewolf Syndrome: the wolf people

The Wolf Boy, Living Werewolf or Dog-Faced Boy have been fixtures of the sideshow world for centuries. Jo-Jo, the Dog-Faced Boy is likely the most famous of the lot however cases of hypertrichosis have been reported and documented long before Jo-Jo.

Hypertrichosis is really a blanket medical term that refers to excessive body hair. It can actually be generalized, symmetrically affecting most of the torso and limbs, or localized, affecting only a small area or location. The term is, however, usually reserved to refer to very above-average amount of normal body hair that is unwanted.
Nearly all the skin of the human body – with the exception of the palms and soles of the feet – are covered with hairs or hair follicles. The density of the hairs per square centimeter, the thickness of the hairs, color of the hairs, speed of hair growth, and qualities such as kinkiness tend to vary from one part of the body to another and also from one person to another. But in hypertrichosis all of the various controllers for the regulation of that genetic information are these lacking, damaged or none existent. Furthermore, there are a few subcategories of hypertrichosis.

Congenital hypertrichosis terminalis is the variation most people associate with the condition. This version involves all over body hair growth. Interestingly this form of hypertrichosis is almost always associated with gingival hyperplasia – meaning these ‘savage and vicious’ wolf men often posses very few teeth. Furthermore persons afflicted are said to have soft, smooth and gentle voices. Naevoid hypertrichosis is an unusual form of hypertrichosis where a solitary circumscribed area of hair growth occurs. It is not usually associated with any other diseases, except if it arises as a faun-tail on the lower back, then it may indicate underlying spina bifida. Naevoid hypertrichosis can occur at birth or appear later in life and symptoms can range from hairy tufted ears, tails, a heavy unibrow or excessive beard growth in females and males alike. Finally, Congenital hypertrichosis lanuginosa is a very rare form of hypertrichosis with only about 50 cases reported worldwide since the Middle Ages.
The condition is characterized by excessive hair growth on a child at birth. Most of the body is covered with lanugo hair, which is a fine, soft and silky hair that covers the fetus and which is usually shed at around 8 months gestation and replaced with fine vellus hair. In this condition the hair continues to grow throughout life. The initial shock of a fur covered infant, however, is luckily a very rare occurrence.
The exact cause of hypertrichosis is unknown. But it is believe to be a genetic disorder that is inherited or occurs as a result of spontaneous mutation.
 

Progeria: the 80-Year-Old Children

Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children.

Ninety percent of children with progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs without cause. It is only very rarely seen in more than one child in a family.

Among the rarest people in the world are those with progeria, or accelerated aging disease. While leaving intelligence intact, progeria ages the body many times faster than normal, leaving teens with frail bodies of people nearing 100 years old.

First described by Dr. Jonathan Hutchinson in 1886 and Dr. Hastings Gilford in 1904.

Also known as Hutchinson-Gilford Progeria Syndrome is an extremely rare genetic disease. In this disease the aging process of the body accelerates much faster than what it does in normal humans. This process of aging gallops to about seven times the normal rate. Because of this accelerated aging, a child of ten years would have a look of 70 years old. He or she may also have similar respiratory, cardiovascular, and arthritic conditions that a 70-year-old would have. 

There is no cure for this disease. The exact cause is unknown, but it is believed due to a single abnormal (mutant) gene. Normally for each gene there are two copies, one from each parent. Progeria is considered to be the result of a dominant mutation because the gene in question has one normal copy and one abnormal copy, as opposed to a recessive mutation in which both copies are abnormal. Because neither parent carries or expresses the mutation, each case is believed to represent a sporadic new mutation which happens at the time of conception.

Progeria affects between 1 in 8 million (approx.) children, with a total reported incidence of just over 100 in the century since it's been identified. There are currently between 30 and 40 known cases worldwide of Progeria. Children from all races and cultures from around the world have been affected. 

Because of the lack of a specific laboratory test at this time, the diagnosis must be based on the physical appearance of the individual. The diagnosis is usually made in the first or second year of life when skin changes and failure to gain weight become apparent.

Features

• Dwarfism. 
• Small face and jaw in relation to size of head.
• Delayed tooth formation.
• Wrinkled and aged-looking skin. 
• Stiffness of joints. Hip dislocation.
• Baldness
• Pinched nose.
• Mental growth is equivalent to other children of the same age.
• Most children with Progeria live no longer than their early teenage years, though one or two have lived to be as old as 20 or 21.
• Generalized atherosclerosis and cardiovascular problems.
• Children suffering from this disease tend to have remarkably similar appearance in spite of being of different racial background.

Research indicates that a chemical (hyaluronic acid) may be found in greatly elevated levels in the urine of Hutchinson-Gilford Progeria Syndrome patients. The same abnormality has been found in Werner Syndrome, which is sometimes called 'progeria of the adult'.

Research indicates that a chemical (hyaluronic acid) may be found in greatly elevated levels in the urine of Hutchinson-Gilford Progeria Syndrome patients. The same abnormality has been found in Werner Syndrome, which is sometimes called 'progeria of the adult'.

Elephantiasis: grossly enlarged members

Lymphatic filariasis, also known as elephantiasis, is best known from dramatic photos of people with grossly enlarged or swollen arms and legs. The disease is caused by parasitic worms, including Wuchereria bancrofti, Brugia malayi, and B. timori, all transmitted by mosquitoes. Lymphatic filariasis currently affects 120 million people worldwide, and 40 million of these people are seriously diseased. When an infected female mosquito bites a person, she may inject the worm larvae, called microfilariae, into the blood. The microfilariae reproduce and spread throughout the bloodstream, where they can live for many years. Often disease symptoms do not appear until years after infection. As the parasites accumulate in the blood vessels, they can restrict circulation and cause fluid to build up in surrounding tissues. The most common, visible signs ofinfection are excessively enlarged arms, legs, genitalia, and breasts.

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