Five unusual rare diseases

Five unusual rare diseases
Medicine has to deal not only with angina and heart attacks.Doctors sometimes have to deal with diseases that occur once in a million, if not an isolated case.

fight diseases such hardest.After the study of the causes and development of drugs against diseases of mass thrown a large force, to deal with the isolated cases often too expensive and unprofitable.Rare diseases are called orphan from English orphan - an orphan.

However, we can say that in most cases the cause of unusual rare diseases are genetic defects.

Progeria: the rapid aging


disease manifests skin changes and internal organs as a result of premature aging.

Already at 2-3-th year of life the child stops growing, the skin thins, becomes dry and wrinkled.There is muscle atrophy, atherosclerosis and a number of diseases peculiar to old age.

In another form of the disease manifests itself during puberty and reaches its peak after 20 years.Patients rapidly turning gray and falling out hair, subcutaneous fat atrophy,

there is a number of diseases of the internal organs until the cancer.

total in the world were about 80 cases of the disease.Cause Progeria - a mutation of the gene.

This rare disease is currently incurable, children with this defect on average live no more than 13 years.When the disease in adolescence is also an unfavorable prognosis.

FOP (fibrodisplations ossificans progressiva): stone muscles


This rare disease arising as a result of inflammatory processes ossified tendons, tissue, ligaments, muscles.A person is formed like a second skeleton that eventually leads to total immobility.

The disease usually begins with the appearance of the skin under the seal of unknown character size from 1 to 10 cm. In most cases of FOP begins in the cervical spine, back muscles in the spine area, on the head, shoulders, and later transferred to the abdominal, hip department and beyond.

number remains unaffected muscles - heart muscles, the diaphragm, tongue, eye muscles.

in the world were about 2.5 thousand. Cases of the disease.The reason - a mutation of the gene.In 2006, the gene has been identified, of which mutations cause the disease is currently under development specific blockers.

However, at the present moment the disease is considered incurable, stop its progression is impossible, poor prognosis.

Universal congenital hypertrichosis: werewolf syndrome


werewolf syndrome - a rare disease that is accompanied by excessive growth of hair on all parts of the body, in uncharacteristic places - on the face, back, and so on.Often also accompanied by an anomaly of teeth.

Data on the prevalence of this disease is not rare.His reason - gene mutation most often occurs in the first trimester of pregnancy.

can not cure this disease, one can only deal with the symptoms.In some patients, the hair growth rate is reduced by itself after the end of puberty.

Syndrome permanent sexual arousal (PSAS)


Syndrome causes the patient is almost constant feeling of sexual arousal.Call it may be any of touch and vibration, such as a mobile call, use a hair dryer, riding in a car or train, etc.

suffering from this rare disease have noted that experiencing up to 200 spontaneous orgasms a day.This constant excitement does not cause the patient any pleasure, on the contrary, causes discomfort and pain.

According to recent studies, were about 7 thousand. Cases in the world.

The cause of the disease is not known reliably.It is assumed that the disease is caused by disorders of the nervous conduction.Also, there is evidence that the disease often occurs after hormonal therapy and postmenopausal women.

Loosen unpleasant symptoms helps antidepressants, hormone therapy, local nerve blocks, as well as the passage of cognitive therapy.Completely eliminate syndrome, however, it is impossible.

Trimethylaminuria man who smells rotten fish


in the patient's body accumulates trimethylamine, which is standing out with sweat creates an unpleasant smell - the smell of human rotten fish, rotten eggs, garbage or urine.The disease is more common in women.

odor intensity reaches a peak just before and during menstruation, as well as after administration of oral contraceptives.

no accurate data on the prevalence of the disease.According to some studies, the carriers of the disease are up to 1% of the white population, but not all of it is shown.

reason - gene defect, because of which lack the enzyme which converts trimethylamine into a substance which has no odor.This same enzyme can destroy some medicines.

patients recommend to avoid eating foods that contain choline, also known as vitamin B4 (for example, it is rice, oatmeal, cabbage and some other products).Sometimes also prescribe antibiotics or activated carbon.

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