Medical categories
Genetic diseases of the nervous system (52 contents)
Krabbe disease: what is it, what are the symptoms and treatments?
This article provides basic information on Krabbe disease.
Dravet syndrome - symptoms, treatment, prognosis
DravetSyndrome (DS) is classified as a very rare genetic condition. It was first described in the literature in the 1970s. What are the symptoms of the disease and prognosis?
Subacute necrotising encephalomyelopathy and its effects
Subacute necrotising encephalomyelopathy is categorised as a rare genetic disease that results in gradual degeneration of the central nervous system. The first symptoms appear as early as early...
Canavan's disease - spongiform degeneration of the nervous system
Genetic diseases, especially those that occur very rarely, are incurable and scientists often do not know what causes them. Canavan's disease is a very rare genetic disease that significantly reduces...
Leigh syndrome and its symptoms
Leigh syndrome is classed as a genetic, mitochondrial disease, meaning that the disease-causing mutation has occurred in the mitochondrion. What causes genetic changes? How is Leigh syndrome treated?
Alexander's disease type I - symptoms, course and treatments
Alexander's disease is a very rare genetic disease that is responsible for damage to the central nervous system. The neurodegenerative disease destroys glial proteins and leads to a progressive...
Progeria - when a child looks like an old man
Progeria - a genetic disease that affects just over a hundred people worldwide. What causes it? What is the prognosis for patients?
Charge syndrome - a rare genetic disease in children
Charge syndrome is categorised as a rare genetic disease that is caused by a mutation in the CDH7 gene. In Europe, an estimated one in a hundred thousand healthy babies is born with Charge syndrome.
Stickler syndrome - what do you know about it?
Stickler synd rome is a genetic disorder that causes abnormalities in the synthesis of collagen. Collagen plays an important role in ensuring the normal elasticity of tendons and ligaments, and the...
Parchment skin - a rare skin disorder
Genetic diseases can manifest themselves as disorders that also occur on the surface of the skin. An extremely rare condition is so-called parchment skin, a condition caused by a number of genetic...
Mysterious Takahara disease
The mysterious-sounding Takahara disease is also known as acatalasia. What are the symptoms of this disorder? What treatments are recommended to reduce the symptoms of the disease?
Mitochondrial mutations - can they be treated?
Many diseases that people face are caused by mutations. Modern knowledge of genetic diseases is advancing, but it is still not always possible to determine what contributed to the mutation and what...
What is Prader-Willi syndrome?
Prader-Willi syndrome is considered to be one of the extremely rare genetic diseases. The disease is characterised by the appearance of a number of characteristic clinical symptoms. According to...
Prenatal diagnosis - information for patients
Thanks to the widespread use of non-invasive methods for the diagnosis of fetal genetic defects, it is many times possible to avoid invasive tests, which carry a certain risk of pregnancy...
Prostate cancer - causes, symptoms, diagnosis, treatment
Prostate gland (prostate) - one of the parts of the male sexual system, located in the pelvis, below the bladder and directly adjacent to the rectum. This type of cancer is currently the second...
Alport syndrome
Alport syndrome is categorised as a genetically determined disease in which progressive kidney damage occurs. In this condition, the blood filtering mechanism in the glomeruli is damaged.
