The alleged hypoparathyroidism, or Albright's syndrome, is a group of genetically determined metabolic diseases in the course of which there is a deficiency ...…

Lesch-Nyhan syndrome is an X-linked disorder of purine metabolism. The man affected by this condition does not have the enzyme with ...…

Sitosterolemia (phytosterolaemia) is a rare inherited metabolic disease. Only 45 cases have been described so far. However, the percentage of sick people may ...…

SMA or spinal muscular atrophy is a genetic disease, the essence of which is the gradual atrophy of muscles. Some patients develop symptoms of SMA soon after birth, others become ill as adults. SMA - what is this disease? What are the causes of SMA? What is treatment and rehabilitation? What is the prognosis and what is the patient's life expectancy?…

Marfan syndrome is a genetic disorder of connective tissue with a heterogeneous course. The most distinctive features of Marfan syndrome are tall stature, dysp ...…

Sickle cell anemia is a life-threatening blood disease. It causes the clumping of blood cells, and then the formation of blockages in the n ...…

Amyloidosis (amyloidosis, betafibrillosis) is a disease in which proteins are stored in the body. Depending on where these deposits are located, at ...…

Congenital adrenal hyperplasia is a genetic defect consisting in a genetic mutation that eliminates one of the key enzymes in ...…

Duchenne muscular dystrophy is a genetic disease that causes progressive and irreversible muscle wasting (atrophy). It is a gender-linked disease - ...…

Tuberous sclerosis is a rare genetic disease. One of its first symptoms is a characteristic rash that turns into small lumps over time. In p ...…

Von Hippel-Lindau syndrome (VHL) is a rare, genetically determined disease that is inherited in an autosomal dominant fashion. The most common syndrome of changes in ...…

Tourette's syndrome is a type of inherited neurological disorder. Tourette's syndrome manifests itself in the presence of numerous motor and verbal tics.…

Porphyria is in most cases an inherited disease, manifested by, among others, photophobia. For this reason, it was once associated with vampirism. Porphyria ...…

What can you get infected in a public toilet? In theory, many diseases, because there are lots of germs in the public restroom. However, contrary to popular opinion ...…

Friedreich's disease (Friedreich's ataxia) is a genetic disease in which ataxia is the predominant symptom. Friedreich's disease may appear as early as today ...…

Epidermolysis Bullosa (EB), or epidermal blistering, is a genetically determined skin disease. In its course, the skin is as delicate as sparkling ...…

Northern epilepsy is a genetically determined disease, previously diagnosed only in people from Finland. Characteristic ce ...…

Rett syndrome appears suddenly and slowly takes away from the parents a child who had been developing normally. The disorder, due to similar symptoms, is mistaken for ...…

Fragile X syndrome (FRA X) is a genetic disease that is characterized by a decline in intellectual development of varying degrees, usually in peasants ...…

Some come from long-lived families - no serious diseases were stored in their genes. However, others are not so lucky and inherit a tendency to d ...…

Familial Mediterranean fever is a genetic disease that primarily affects the inhabitants of the Mediterranean or the Middle East. The most ch ...…

Gilbert's syndrome is a minor genetic disease that does not require specialized treatment. Nevertheless, it is very important to diagnose it quickly. U os ...…

Myopathies are the most diverse group of neuromuscular diseases as symptoms and severity of symptoms can vary widely - there are so many of them that ...…

People with hemophilia are at risk of developing complications. The first may occur when you try to treat a patient. A person with hemophilia with ...…

Di George's syndrome is a birth defect caused by a loss of DNA material. Underlying this genetic disease is the loss of a fragment of chromosome 22, which results in a deficiency ...…

Peutz-Jeghers syndrome is a genetic disease whose first symptom is often unexplained skin changes. What other symptoms are there in this disease? For ...…

Werner syndrome is a genetically determined disease entity characterized by premature aging. His symptoms usually appear in the period of ...…

Brown diabetes, or primary hemochromatosis, is a serious metabolic disease. Brown diabetes can lead, among others, to for cardiomyopathy and irreversible ...…

Cat scream syndrome is a rare genetic disease. Its characteristic symptom is the crying of a baby, which resembles a cat meowing - hence the common name with ...…

Chediak-Higashi syndrome is a rare autosomal recessive defect of the immune system that usually develops symptoms after birth ...…