Disorders/Diseases/Oddities Thread

GenociderSyo

GenociderSyo

Syo
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On this forum there are many things we run into in a medical sense that leads to some pretty long tangents to explain them. I brought up my interested in all things odd and curious in the medical sense in Historic Images and people seemed to think this thread would be interesting.

I will try to post a new disorder or something weekly, focusing on the rare and more unknown ones. I will also try to focus on ones that include images or videos so that it is more then just boring text.

Some definitions to know:
Orphan Disease
This will come up a lot and it refers to disorders and diseases that fit one of two categories:
  1. Effects fewer then 200,000 people worldwide.
  2. Diseases or disorders that are considered almost eradicated such as cholera and typhoid.
Feel free to bring up your own things you learn and want to ask questions about or share. If you want to request a disorder you've heard mentioned please do.

Alternating Hemiplegia of Childhood
Amniotic Band Syndrome AKA Constriction Ring Syndrome
Arthrogryposis Multiplex Congenita
Batten Disease
Bosma Arhinia Microphthalmia Syndrome - BAM Syndrome
Centronuclear Myopathy
Congenital Insensitivity to Pain with Anhidrosis (CIPA) AKA Hereditary Sensory and Autonomic Neuropathy Type IV
Conjoined/Siamese Twins
Constriction Ring Syndrome AKA Amniotic Band Syndrome
Cornelia de Lange Syndrome
Epidermolysis Bullosa
Fibrodysplasia Ossificans Progressiva
Hereditary Sensory and Autonomic Neuropathy Type IV AKA Congenital Insensitivity to Pain with Anhidrosis (CIPA)
Krabbe Leukodystrophy/Disease
Marshall Smith Syndrome
Morquio Syndrome/Mucopolysaccharidosis IV
Osteogenesis Imperfecta
Progressive Osseous Heteroplasia
Proteus Syndrome & PIK Related Overgrowth Spectrum
Schimke Immuno-Osseous Dysplasia
Schwartz Jampel Syndrome
Thanatrophic Dysplasia
Thrombocytopenia Absent Radius Syndrome - TAR Syndrome


Schwartz Jampel Syndrome
(About 85 people world-wide are diagnosed with this)
​
This disorder involves abnormalities of the skeletal muscles, leading to muscle weakness and stiffness, bone dysplasia, joint contractures and growth delays. Most with this disorder have obvious facial differences since the muscles are so tight that their eyes and mouths cannot fully open. It is usually diagnosed in infancy or early childhood due to its very obvious physical characteristics.

Mental development is generally normal in this disorder, so they are not going to be potatoes. Their muscles are constantly in a contracted state and they must fight against this state to do normal activities. The muscles are so contracted that they tend to have their hip-sockets easily dislocate. Many will use wheelchairs since they cannot walk independently.

They also have issues with their eyes being smaller, having juvenile cataracts and/or having muscle spasms. Most have issues with eyesight and as the muscles become tighter they become functionally blind due to inability to open eyes. They also have issues with speech being unnaturally high due to the throat and vocal chord muscles being effected. They tend to have respiratory issues since once again our hearts and lungs are muscles.

In a paradox situation the usage of muscles relaxers and even anesthetics is counter to helping these individuals since a percentage respond to this with increases muscle tone and hyperthermia (high body temperature).

To have this disorder both your parents must be carriers and there is a very high chance once a child is born with this any subsequent children will have it. Interestingly enough studies in this disorder found out that the parents of people with it had a high chance of being blood relatives. The disorder is caused by a mutation on the short arm of chromosome 1 which is what encodes for Perlecan which is what causes our muscles to function and cartilage to form.

Treatment for this disorder is to treat the various symptoms it causes. All require at least some sort of chronic pain relief since your muscles constantly being contracted is extremely painful. They may need surgeries to treat dysplasia, contractures and scoliosis. Most will require hip replacements in childhood. Problem of course is due to the paradoxal reaction some may not be able to be treated surgically at all.


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Exploding Head Syndrome is a condition in which before or right after falling asleep, the sufferer hears a loud auditory hallucination akin to an explosion or gunshot. Some people also experience a bright flash of light, though this is less common. Due to its nature, people with the condition can sometimes grow fearful of sleep and the condition itself is thought to be sometimes linked to epilepsy or PTSD though a true cause is unknown.
 
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The Real Me said:
Exploding Head Syndrome is a condition in which before or right after falling asleep, the sufferer hears a loud auditory hallucination akin to an explosion or gunshot. Some people also experience a bright flash of light, though this is less common. Due to it’s nature, people with the condition can sometimes grow fearful of sleep and the condition itself is thought to be sometimes linked to epilepsy or PTSD though a true cause is unknown.
Click to expand...
Interesting one! There is an article with a ton of case studies on it from 1989 it is free to download the pdf to read it:
Clinical features of the exploding head syndrome

Looks like it can happen when waking up to....
 
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Schimke Immuno-Osseous Dysplasia
(About 50 people world-wide are diagnosed with this)
​
The first sign of this disorder people see is failure to grow. In its most severe form the life expectancy is around 10 years of age in its mildest about 50 years old. Since this is a multi system disorder they usually die due to stroke, infection, bone marrow failure, kidney failure, heart failure or lung issues.

There are many symptoms seen this disorder which include fine hair, large nose, severe persistent migraines, disproportionate short stature due to bone abnormalities. brain-related light-sensitivity and hyper-pigmented macules (these are almost like skin tags yet larger, they look like the growths in neurofibramatosis. Their short stature is due to a specific issue known as spondyloepiphyseal dysplasia. This causes poorly small displaced femurs and hip-sockets that are too shallow. Almost half have issues with their thyroids. All with this disorder have progressive untreatable kidney disease leading to renal failure. Since this failure is due to an issue with proteins kidney transplant does not solve things. Half have atheroscelrosis and this is untreatable with transplantation as well since their tissue itself is at fault. The Central nervous system is also affected with there being structural issues in the brain itself and a lack of stem cells. Development though is normal until the progressive cebral ischemia occurs. This leads to TIAs (mini strokes that take out one area) or full on strokes. This tends to lead to atrophy of the cerebellum, due to this Moyamoya diseases is common in patients. The migraines in this disorder became worse in response to anti-migraine medicine and it is believed there may be a cerebral vasoconstriction syndrome related to this. They are all severely immunocompromised and their blood in response to drug therapies leads to toxic levels much easier. They do not respond or respond minimally to treatments to increase the immune system. They are also at a higher risk for autoimmune disorders of the blood.

This is another autosomal recessive disorder. It is genetic in nature, but not caused by chromosomal differences. It is an issue with the enzyme SMARCAL1 that is used in DNA repair, DNA stress response, and the reannealing of single strand DNA to double strand DNA. This causes non-random and global changes in gene expression.

Treatment is mainly to deal with certain symptoms that occur. Transplants may be attempted for renal and bone marrow issues, but they may not be successful. Blood thinners may also be used to attempt to stall TIAs and strokes.

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The Real Me said:
Exploding Head Syndrome is a condition in which before or right after falling asleep, the sufferer hears a loud auditory hallucination akin to an explosion or gunshot. Some people also experience a bright flash of light, though this is less common. Due to its nature, people with the condition can sometimes grow fearful of sleep and the condition itself is thought to be sometimes linked to epilepsy or PTSD though a true cause is unknown.
Click to expand...

I really hate when people self diagnose and jump onto health conditions to make themselves feel special but...

That has definitely happened to me exactly as you describe more than a few times... I'll have to look into that.
I have several very strange sleep related issues and what's really strange about them is, because I'm barely conscious when I experience them, I very rarely check into them or even think about them when I'm awake.
 
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McCarthy said:
I really hate when people self diagnose and jump onto health conditions to make themselves feel special but...

That has definitely happened to me exactly as you describe more than a few times... I'll have to look into that.
I have several very strange sleep related issues and what's really strange about them is, because I'm barely conscious when I experience them, I very rarely check into them or even think about them when I'm awake.
Click to expand...
Good luck with your research.
 
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@Agent Abe Caprine FOP and its lesser known sister condition POH review commencing!

So i have worked with one teenager with this but it was not for long. It was in a special needs camp setting for the multiply disabled and it was decided by the higher ups that the liability was too much since the child was also fairly delayed and unable to understand safety measures.

Fibrodysplasia Ossificans Progressiva
(Of an estimated 4000 affected individuals worldwide, there are approximately 900 known patients)​

This disorder causes a person's skeletal muscles and soft connective tissues to literally turn to bone via ossification. There is a usual progression that occurs fusion of joints which is neck then back then shoulders then elbows then hips then knees then wrists then ankles and then jaw. Though injuries can cause flare ups in any area and cause that to ossify first. Most casts of FOP are spontaneous and the condition is caused by a mutation in the ACVR1 gene responses for bone formation and repairs.

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FOP Toe
(100% of patients present with this from birth)​

Bone formation in this disorder begins as cartilage and turns into full on bone. It is progressive so occurs spontaneously, but also can be brought on by injury or even a common virus. Flareups are easily noticeable because the area will suddenly have a firm swelling and be warm to teh touch, some individuals have fevers that are a precursor to flareups. There is a spectrum to the progression of this disorder some seeing gradual and some seeing rapid growth of bone. Bone development can block off the lymphatic system as well as affecting bloodflow.

The most severe cases of FOP result in completely immobilization as their spine ossifies and entrapment neurapothies occur. This leads to respiratory issues and heart issues. Hearing is also affected in half of cases and the most severe forms can lead to hair loss and mild cognitive issues.

Sadly before FOP was well known the first thing done on swelling was to biopsy them. This lead to rabid bone formation in those areas. People with FOP also cannot get immunizations that are intramuscular. Dental therapy is an issue because local anesthetics can cause bone growth and any stretching of the jaw. Various viral illnesses including influenza and influenza-like illnesses may provoke flare-ups of the condition.

People with FOP have to make a decision that you wouldn't even think of. They have to choose as the diseases progresses if they wish their bones to keep them in a bent over seated position or a flat out laying down/standing up position.

History of FOP​

  • In 1692:
    • French physician Guy Patin met with a patient who had FOP and mentioned the encounter in his writings. He referred to the man as "Turning into Wood"
  • In 1736:
    • British physician John Freke described at length an adolescent whose diagnosis included hard swellings throughout his back.
  • In the 1900s:
    • The disease became known as myositis ossificans progressiva, which means "muscle turns progressively to bone"
  • In the 1970s:
    • The name was officially modified to fibrodysplasia ossificans progressiva (FOP) by the late Dr. Victor McKusick of Johns Hopkins University School of Medicine, who is considered the father of medical genetics. The new name better reflects that other soft (or fibrous) tissues in addition to muscle (for example tendons and ligaments) are replaced by bone.
  • In 1989:
    • FOP Collaborative Research Project established at the University of Pennsylvania School of Medicine by Drs. Frederick Kaplan and Michael Zasloff
  • In 1990:
    • 1st FOP Natural History Study conducted by Drs. Kaplan and Zasloff
  • In 1991:
    • Dr. Eileen Shore joins the University of Pennsylvania FOP research group
  • In 1992:
    • FOP Molecular Biology Laboratory established at the University of Pennsylvania
  • In 1993:
    • Natural History of Heterotopic Ossification in Patients with FOP, a Study of 44 Patients published by Drs. Kaplan and Zasloff
  • In 1994:
    • Dr. Kaplan awarded Johnson & Johnson Orthopaedics Research Grant for “Molecular Pathogenesis of Heterotopic Ossifications in FOP and in a Transgenic Animal Model”
    • National Institutes of Health (NIH) Research Grant provides $200,000 annually for 3 years for FOP research
  • In 1997:
    • Dr. Kaplan awarded the Isaac and Rose Nassau Professorship of Orthopaedic Molecular Medicine at the University of Pennsylvania School of Medicine, established by Diane Weiss in memory of her parents
    • NIH Research Grant renewed for 4 years
    • FOP Research Lab collaborates with scientists from University of California-Berkeley, Oxford University and Association Francaise Contre Les Myopathies
  • In 2000:
    • Human Genome Project completed
  • In 2002:
    • Phase I Clinical Trial for safety & efficacy of Squalamine, sponsored by Magainin Pharmaceuticals. Protocol was complex and no patients enrolled
    • Dr David Glaser joins the University of Pennsylvania FOP Research Group
  • In 2006:
    • After 15 years of painstaking research, the FOP research team, led by the University of Pennsylvania School of Medicine, along with their international collaborators, pinpointed a single gene mutation -- one letter out of six billion in the human genome -- that causes the runaway bone growth of FOP.
    • Recurrent Mutation in the BMP Type I Receptor ACVR1 Causes Inherited and Sporadic FOP published in Nature Genetics
  • In 2009:
    • Dr. Kaplan elected to the Institute of Medicine
  • In 2010:
    • Survey of neurological symptoms in FOP conducted by Dr. Joseph Kitterman
  • In 2012:
    • University of Pennsylvania FOP Natural History Survey conducted to understand the natural progression of FOP
    • Neurological Symptoms in Individuals with FOP by Dr. Joseph Kitterman and others published in the Journal of Neurology
  • In 2013:
    • FOP research is international with 25 venues studying FOP. Primary work is located at the University of Pennsylvania Center for Research & Related Disorders in FOP.
    • University of Pennsylvania conducts an international FOP Flare-Up Survey
  • In 2014:
    • Clementia Pharmaceuticals, Inc. begins a Phase 2 clinical trial of palovarotene, an experimental RAR gamma agonist, in adults with FOP.
  • In 2016:
    • Clementia Pharmaceuticals, Inc. Phase 2 clinical trial of palovarotene in adults is completed and enrollment of children ages 6 to 14 years begins
    • The International Clinical Council on FOP is formed
  • In 2017:
    • Dr. Robert Pignolo begins seeing FOP patients at the Mayo Clinic
    • Kyoto University researchers begin the world’s first clinical trial of a drug identified using iPS cells for those living with FOP in Japan
    • Two pharmaceutical companies have drugs that are registered for worldwide FOP clinical trials - Clementia's MOVE trial and Regneron's LUMINA-1 trial
    • Clementia's MOVE trial enrolls its first patient
  • In 2018:
    • Regeneron's LUMINA-1 trial enrolls its first patient

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Mütter Museum FOP Skeleton -Harry Raymond Eastlack

Really good Documentary on it:

There is also one called "The Human Mannequin" but it appears to no longer be avaiable off of BBC.

There are some guidebooks in the attachments for further reading.

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Resources:
International Fibrodysplasia Ossificans Progressiva Association
FOP Friends
 

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You all get a double today cause I ran into this sister condition on the IFOPA website:

Progressive Osseous Heteroplasia
(About 50 Cases Worldwide)
​
This disorder begins with ossification of the skin during infancy. It then moves onto subcutaneous fat, muscles, tendons, ligaments, and the fascia. The course of this disease is not predictable and it may only affect one area or be all over. Not much is known yet of the cause of this disorder but it is beleived to be an issue in the gene GNAS. This gene is involved in producing a protein that regaulates proteins for bone growth and direct cell fate decisions.

This disorder tends to progress slowly and asymmetrically. The skin that is ossifying at first feels rough and these areas may merge together or remain separate. As progression continues deeper portions ossify as well. This disorder causes sharp, needle-like projections of bone to break through the surface of the skin, causing irritation or superficial infection.

As the bone growth progresses joints lose range of motin and may fully lock. The bones may also have restricted growth leading to assymetrical limbs. Some patients only have one side effected and others the entire body. This bone growth does not have the warning signs that FOP does and is mainly spontaneous.

There is a handbook in attachments for this disorder as well.

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Fatal Familial Insomnia is probably the only other condition that terrifies me as much as Fibrodysplasia Ossificans Progressiva. It's a prion disease that causes brain degeneration and like other prion diseases our understanding of its causes is minimal (other than there is a genetic factor, but not everyone with the gene gets it - something methylates the gene and we have no idea what) and there is no cure, and barely any treatment - some animal trials suggest amphetamines might slow it down a bit. That's all. Fortunately the mutation is vanishingly rare (only 40 families worldwide are believed to carry it) and if you don't have that gene you won't get this disease. Thank fuck.

In short: you stay awake until you go insane and die. The part of your brain that governs sleep has turned into useless sponge, so you 100% are physiologically incapable of sleep. On average, people who die from this will not have slept, at all, for nine months. They will have slept very badly for about 9 months before that as well. By the end, most people are in a permanent mute, catatonic state after months of 24/7 panic and madness. Whilst on average it takes 18 months to kill you after diagnosis, some people survive for six years.

Medically-induced comas don't work. Whilst they will knock you unconscious, the brain is not asleep and does not perform the regenerative functions that sleep provides, and they will be just as insane on being roused - and probably dreaming equally awful things as they would when awake.

There are two diseases that if I were diagnosed with them would cause me to suck-start a shotgun while I still could - FOP and this. Whilst mankind has come up with many brutal, horrifying and drawn-out ways of torturing and killing each other, it seems that out own biology makes even the most sadistic torquemadas seem like a gentle little kitten.
 
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You know for all the shit that you can born with, none of them can trump being born from when your parents are cousins who are too horny to fuck someone else.


The star of the show is blind from an early age, severely retarded, and he wants to drive car, despite being blind.

And this is the end result of a few generations of inbreeding.

Who do they blame? It's the doctors.
 
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NerdShamer said:
You know for all the shit that you can born with, none of them can trump being born from when your parents are cousins who are too horny to fuck someone else.


The star of the show is blind from an early age, severely retarded, and he wants to drive car, despite being blind.

And this is the end result of a few generations of inbreeding.

Who do they blame? It's the doctors.
Click to expand...
Sadly I've seen at least 2 other documentaries on the same subject.
 
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Once I saw a little girl with a huge hairy birthmark on her face. Ironically over the same eye I was dealing with Bells Palsy in (long story short on that one, a cold decided to play baby object permanence and so my body attacked itself leaving me unable to blink in that eye for a bit.) I think that was called werewolf disease, let me check
 
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