Genetic diseases 2025, February

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 ...…

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 ...…

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

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 ...…

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

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 ...…

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

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

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 ...…

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 ...…

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

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

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 ...…

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 ...…

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

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

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

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 ...…

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

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?…

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

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

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

Hunter's syndrome, or mucopolysaccharidosis type II, is a rare genetic metabolic disease. Hunter's syndrome stands out among other types of muk ...…

Methylmalonic acidosis is a metabolic disorder in which the body does not break down certain proteins and fats properly. Consequently, the substance with ...…

Cystinosis is a rare but very dangerous metabolic disease. In its course, the amino acid cystine accumulates in excess in the body. Damages l ...…

Krabbe's disease (globoid leukodystrophy) is a little known, very rare genetic disease that mainly affects the peripheral and central nervous system. Classes ...…

Zellweger syndrome (ZS) - also known as the cerebrohepatorenal syndrome, is a rare metabolic disease resulting from dysfunction of the human body ...…

Abetalipoproteinemia (Bassen-Kornzweig syndrome) is a genetically determined metabolic disease in which fat absorption is impaired ...…

Wilson's disease is a rare but very dangerous metabolic disease. In its course, copper, which accumulates in excess in the body, damages the brain and the ...…