The most rare diseases
Modern medicine has to face not only treatment of angina or hypertension, but also unusual diseases, rare, and sometimes even single, drugs against which are not always available. Rarely occurring diseases are termed "orphan".The causes are mostly mutations within the genetic code. So what are these diseases?
Progeria
It shows signs of rapid aging of the body:
- irreversible changes in skin and organs( internal);
- growth arrest and muscle atrophy;
- progress of elderly diseases, oncology;
- loss of hair with the subcutaneous fat layer.
Progeria is incurable, maximum life expectancy is 13 years, recorded cases are 80.
FOS
Appears as muscle ossification. In medicine, called fibrodysplasia ossifying progressive. Manifestations:
- ossification of the tissues of ligaments, tendons, separate muscles;
- formation of the secondary skeleton with subsequent immobility.
In the initial stage - the appearance of subcutaneous seals mainly in the area of the spine, along its entire length.
The reason for the mutation of genes, and the gene, the culprit of the mutation is identified. To treat a rapidly progressing disease, special blockers are being developed, but for now it is considered incurable.
Hypertrichosis
The disease is called werewolf syndrome. Unusualness of universal( congenital) hypertrichosis in excessive hair growth, and in all areas of the human body. No exception and uncharacteristic places - face, back, hands, etc., accompanied by abnormality of teeth.
The cause is also considered a gene mutation that occurs during pregnancy. Treatment does not lend itself to treatment, it is only possible to combat symptoms. There are cases of a decrease in the growth rate of the hair cover due to puberty.
Syndrome PSAS
Constant sexual excitement caused by any touches and vibrations - a mobile phone ringing, driving a car, using a hair dryer, etc., which is accompanied by several hundred orgasms( spontaneous) against a background of constant excitement without a sense of satisfaction, but with pain anddiscomfort.
An unusual disease, the cause of which scientists could not name, suffer nearly 7 thousand people all over the world. According to the assumptions, the whole fault is a violation of the conductivity of nerve endings or hormone therapy among women during postmenopause.
Complete recovery from the syndrome is not possible, facilitates the state of treatment:
- antidepressants;
- blockade of nerve endings;
- therapy - hormonal and cognitive.
Trimethylaminuria
From a person comes the smell of rotten fish, rotten eggs, debris or urine. The cause of the physician consider the accumulation and excess in the body of trimethylamine, released during the operation of the sweat glands.
An interesting fact - the disease most often affects women during menstruation, sometimes when using oral contraceptives.
This rare disease has a very narrow range of distribution - within 1% of the population. The reason is the absence of an enzyme for processing trimethylamine into a substance without a smell.
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