Top 10 Baffling Diseases We Still Don’t Have Cures For — TopTenzNet


Top 10 Baffling Diseases We Still Don’t
Have Cures For 10. Berardinelli-Seip Congenital Lipodystrophy Occurring in every one out of about 10 million
births, Berardinelli-Seip congenital lipodystrophy (BSCL) is a condition marked by a severe lack
of fat tissue in the body, with fats being stored in unlikely places around the body
such as the liver and muscles. Because of these odd symptoms, patients with BSCL have
a rather distinctive look and appear very muscular, almost superhero-like. They also
tend to have prominent facial bones and enlarged genitalia. In one of the two known types of BSCL, medical
researchers have also found a mild to moderate intellectual disability — but that’s far
from being the patients’ biggest concern. The highly unusual handling and depositing
of fat leads to serious problems, such as high levels of fats circulating in the bloodstream
and insulin resistance, while the accumulation of fats in the liver or heart can lead to
severe damage of both organs and even sudden death. Apart from drugs normally used for
patients with hyperglycemia, BSCL patients have to maintain a strict diet in order to
keep their fat and carbohydrate intake to a minimum, while also avoiding total proteins
and trans fats. 9. Leukodystrophies, or Benjamin Button Syndrome A somewhat similar condition was depicted
in F. Scott Fitzgerald’s “The Curious Case of Benjamin Button” and the subsequent
movie adaptation, but the actual disease is quite a bit different, albeit just as scary.
Because of an improper growth of myelin (the brain’s white matter) people suffering from
leukodystrophies will experience a gradual decline in development, essentially going
from a normal adult to having the thought process of a toddler. Affecting about one in a few thousand individuals,
most cases of leukodystrophies are genetic in nature and also share a number of common
features with the less rare multiple sclerosis, which is also caused by the loss of white
matter from the brain. The more disturbing types of leukodystrophies are not inherited
but may arise spontaneously, even after the individual in question has been living a normal
and healthy life into adulthood. Around forty rare genetic disorders comprise leukodystrophies,
all of them having mostly similar symptoms. Treatment is usually limited to symptom management. 8. RPI Deficiency, the World’s Rarest Disease With a single patient suffering from it in
all known history, RPI deficiency may well be the rarest disease in the world, although
it shares a number of similarities with the aforementioned leukodystrophies. Caused by
a low production of the Ribose 5 Phosphate Isomerase (RPI) enzyme, which is pretty much
in charge of your body’s metabolism, the disorder consists of a number of mutations
and a range of symptoms that aren’t found together in any other disease. The only known patient to have it was born
in 1984 and over the years developed psychomotor retardation, epilepsy, optic atrophy and extensive
abnormalities of his brain’s white matter. Despite extensive investigations and research
over the years, physicians are yet to either find a cure or even give a prognosis, especially
since no other patient is known to exist on the planet. 7. Lesch–Nyhan Syndrome, or Self-Cannibalism Affecting one in over 300,000 individuals,
Lesch-Nyhan syndrome (LNS) is a rare disorder which is also caused by a deficiency of a
metabolism enzyme, but with a different and horrifying symptom. Apart from delayed overall
growth, nervous system impairment, testicular atrophy, kidney damage and sometimes acute
inflammatory arthritis, most LNS patients tend to injure themselves via biting. Without
outside help some of them can go as far as literally biting themselves to death, which
is why most LNS patients are kept in restraints for most of their short lives. There are even
some cases in which their front teeth are extracted in order to keep them from biting
themselves. Despite this atrocious symptom, LNS usually
kills via kidney failure, and patients have a two decade prognosis at best. The treatment
is either symptomatic or experimental, with no full-on cure existing at the moment. The
only good news about the disease is the fact that women are mostly devoid of symptoms and
are just carriers. 6. Moebius Syndrome The rare Moebius syndrome is characterized
by complete facial paralysis. It seems that only up to 20 individuals in 20 million births
suffer from this congenital neurological disorder, and those who do may also exhibit limb abnormalities
(such as missing fingers) and corneal erosion because of their limited ability to blink. Since facial expressions and smiles are an
important part of social interaction, Moebius syndrome patients are erroneously stereotyped
as being mentally impaired because of their motionless face and frequent drooling. Most
cases don’t appear to be genetic and usually happen after traumatic pregnancies or after
the use of certain drugs by the mother, such as cocaine or abortion inducing substances.
While therapy can improve motor skills and coordination over the years, and eye drops
can battle the implications of impaired blinking, the only so-called cure for the lack of facial
expressions is via smile reconstruction surgery. 5. Prosopagnosia, or Face Blindess Prosopagnosic people are probably the most
misunderstood people on this list, and that’s because their condition is hard to grasp from
the outside. In short, people with prosopagnosia find it difficult or downright impossible
to remember faces, even their own. Some go as far as making funny faces when standing
in front of a mirror in a crowded restroom just so they can see which ones they are.
They’re not technically face blind, as they can detect faces as clearly as any other human,
but their brains can’t memorize what they see. While you would think the biggest problem
with this condition would be following a movie plot, the sadder truth is the fact that most
prosopagnosics are ostracized by people who are offended that they aren’t recognized.
Since there’s no long-lasting therapy that can work with this disorder, most patients
learn to cope with prosopagnosia by using audio and other visual clues to recognize
friends, family and co-workers. 4. Fibrodysplasia Ossificans Progresiva, or
Stone Man Syndrome Yet another cruel genetic disease, fybrodysplasia
ossificans progressiva (FOP) is an odd condition in which most or even all of a person’s
muscle tissue, tendons and ligaments become ossified over time. The only moving body parts
that don’t turn into bone are the cardiac muscle, the diaphragm, the tongue, the extra-ocular
muscles and smooth muscle tissue, essentially transforming the person into a living statue. Since the extra bones appearing on the body
of a FOP patient are formed across joints it can severely restrict movement down to
the inability to fully open their mouths, thus causing difficulty in speaking and eating.
If that doesn’t sound bad enough, any physical trauma — including attempts to surgically
remove the extra bone — are bound to trigger muscle swelling in the area, which in turn
may cause more bone growth. While rather gruesome in both appearance and consequences, FOP is
very rare, with the condition occurring in about one in two million newborns and only
a few hundred cases having been confirmed by modern medicine. 3. Harlequin-type Ichthyosis Harlequin-type ichthyosis is a genetic disorder
that affects just the skin of the patient, albeit in a unique and macabre way. Babies
born with this condition have very hard and thick skin that forms large, diamond-shaped
plates separated by deep fissures. The shape of the eyes, nose, mouth and ears are also
distinctive. While extremely rare, harlequin-type ichthyosis
has been known since at least the mid-18th century, when a case was described in the
diary of a cleric from South Carolina. Until just a few years ago the condition was almost
always fatal, since the characteristics of the patients’ skin makes them highly susceptible
to infections and dehydration, and also make it hard to regulate body temperature or breathe
properly. With recent medical improvements the number of survivors of this severe disorder
is steadily increasing, but there’s still no absolute cure for it. 2. Visual Release Hallucinations, or Charles
Bonnet Syndrome Although it appears in people who are otherwise
mentally healthy, Charles Bonnet syndrome (CBS) can probably make someone feel like
they’re crazy or constantly drugged. In short, patients with CBS can experience rather
vivid and complex visual hallucinations, despite the fact that all of them suffer from partial
or severe visual impairment due to old age or certain diseases such as diabetes or glaucoma.
Obviously, seeing things that couldn’t possibly be there, such as mythological creatures or
cartoon characters, does little to improve the mental condition of sufferers, especially
since most fear they may have a brain-related disease such as Alzheimer’s or Parkinson’s. Even though there’s a rather high rate of
non-reporting of this disorder, it appears that it has a high prevalence among older
adults that have started experiencing significant blindness, with certain studies reporting
anywhere between 10 and 40 percent of nearly blind and old patients suffer from CBS. Fortunately,
unlike the other conditions on this list, CBS symptoms will simply disappear on their
own after one or two years at most, or once the brain has started to adjust to the patient’s
loss of vision. 1. Cyclic Vomiting Syndrome Cyclic vomiting syndrome (CVS) is a medical
condition that’s bound to completely disrupt the normal life of any otherwise health individual,
as its symptoms mainly consist of intense and recurring attacks of nausea and vomiting
for no apparent reason. Corroborated with headaches and abdominal pain, the life-disrupting
episodes can take hours or even several days, with the sufferers sometimes requiring medical
treatment in the ER. Because of the severe and cyclic nature of
nausea and vomiting attacks, CVS patients have a much higher chance of developing a
number of other medical complications, such as dehydration, inflammation of the esophagus,
tooth decay and even a life-threatening tear of the esophagus. While there’s no known
remedy for CVS, there are a number of treatments which may stop or prevent a vomiting attack,
or relieve associated symptoms. Currently, it’s known that about three in 100,000 births
are diagnosed with the condition, and it seems that even Charles Darwin may have suffered
from it.

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