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These are very rare genetically determined diseases, of chronic and severe course, mostly manifesting themselves in childhood. These diseases are so unusual that the criteria of the so-called the prevalence, ie the number of occurrences of the disease in the population in a given period, is estimated at less than 5 cases per 10 inhabitants. Due to the low frequency of occurrence, difficulties in diagnosis and high costs of treatment, knowledge about these diseases has so far been limited. Not much importance was attached to them. As diagnostic methods are developed, we know more about them.
Mazurka See the gallery 5
- The record holder gave birth to a total of 69 children
The most fertile woman in history gave birth to 69 children. This happened in Our Country in the XNUMXth century. Interestingly, all of her pregnancies were multiple.
- Endometrium – structure, endometrial cycle, fertilization, diagnostics, diseases [EXPLAINED]
The endometrium is the mucosa that naturally lines the uterine cavity. It can have a different thickness depending on the age of the woman and the phase of the cycle …
- Thyroid diseases – symptoms, treatment, Karolina’s history
It looks inconspicuous, like a few centimeters long butterfly hidden inside the neck. But when it goes crazy, the butterfly turns into a monster that can destroy your life.
1/ 5 Cystic fibrosis
Cystic fibrosis (CF) is the most common genetic disease in the human population. The lesions concern the respiratory, digestive and reproductive systems. Changes in the respiratory system arise as a result of thick secretions remaining. Thick, sticky, difficult to remove mucus sticks and clogs the bronchi and bronchioles. The residual mucus makes breathing difficult and causes chronic inflammation caused by the growth of bacteria. Cystic fibrosis also affects the organs of the digestive system – the pancreas and liver. Read more about this diseaseRare diseases – an overview of selected disease entities photo: Shutterstock
2/5 Homocystynuria
Homocystinuria is a genetically determined metabolic disease caused by a deficiency of the enzyme cystathionine synthetase in the liver. This causes an increase in the concentration of homocysteine in tissue fluids and an increase in the level of methionine. Homocystinuria causes changes in connective tissue, muscle tissue, the central nervous system and the eyesight. The tendency to develop vascular clots is also increasing. This can lead to dangerous complications, e.g. a heart attack, pulmonary or renal embolism. Common symptoms: Ocular: lens dislocation severe myopia atrophy of the optic nerve The locomotor system: long limbs scoliosis slim, tall silhouette lopsided knees shifting gait with high feet 3. Nervous system: mental retardation – caused by small clots in the cerebral vessels, convulsions – caused by blood clots psychological problems More about homocystinuriaRare diseases – an overview of selected disease entities photo by Shutterstock
3/5 Mukopolisacharydoza (MPS)
It is a very rare metabolic disease, hereditary and very difficult to diagnose. It occurs once in 100 births. It is caused by a metabolic defect, consisting in the accumulation of mucopolysaccharides in the body, which damage the cells and organs of the body. As a result, it leads to the destruction of almost the entire child’s body. An early symptom of the disease is umbilical and inguinal hernia, mucosal polyps, hearing problems. Later in life, the problem is excessive mobility of children, joint stiffness, diarrhea, and corneal clouding. There are also cases of seizures with corresponding changes in the brain wave (EEG) chart. Later there is a grotesque (masquerade) face. See the history of a child suffering from this diseaseRare diseases – an overview of selected disease entities photo: Shutterstock
4/ 5 Tuberous sclerosis
It is a rare, multi-organ genetic disease belonging to the group of phakomatoses that causes changes in the kidneys, heart, eyeballs, brain, lungs and skin, often associated with intellectual disability and epilepsy. Over the last two decades, significant advances have been made in the knowledge of this disease due to the discovery of its genetic basis – mutations in the TSC1 and TSC2 genes. It creates new possibilities for an effective therapy of tuberous sclerosis. See the history of a person suffering from this disease. Rare diseases – an overview of selected disease entities photo by Shutterstock
5/ 5 Pompe disease
It is a rare, muscle-debilitating disease that affects both children and adults. There are 2 types of the disease: in children (appearing within a few months after birth) and the type that affects older children and adults (gradual course). Both types can be characterized as progressive muscle wasting and breathing difficulties. The course of the disease depends on the age at which it occurs and the degree of organ damage. Rare diseases – an overview of selected disease entities photo: Shutterstock