Diseases

The Kearns-Sayre syndrome (KSS) was systematically described for the first time in 1958 and is one of the very rarely occurring, genetically determined mitochondrial diseases. The KSS has a core symptomatology with few symptoms that occurs in all patients

Krabbe's disease is an inherited storage disease that causes demyelination of the nervous system. The cause of this phenomenon is a chromosomal mutation. So far, the disease is incurable.

If the lactate level in the blood rises, while at the same time a decrease in the acid-base balance occurs, so-called lactic acidosis occurs. Oxygen deficiency, muscle work or even states of shock, pulmonary embolism and operations can cause acidosis

Paramyotonia congenita belongs to the group of myotonia, which are characterized by long-lasting states of tension in the muscles. It is a genetic disease in which the function of the sodium channels is disturbed. The symptoms appear

Leigh syndrome is a hereditary disease. It is one of the mitochondrial diseases.

Cardiomyopathy is the technical term for acute and chronic diseases of the heart muscle. For the layman, the causes of cardiomyopathy are almost unmanageable.

The four-finger fox is a palm line that often occurs on people with some form of trisomy. The presence of a four-finger furrow has in and of itself no pathological value, since the hand line does not affect the function of the hand

If muscle weakness increases in adulthood, a neurologist should be consulted to rule out type 2 myotonic dystrophy. This is especially true if there are additional complaints such as cardiac arrhythmias or thyroid disorders

Foot-and-mouth disease is a notifiable disease that is transmitted by viruses and mainly affects ungulates.

A chest deformity is a malformation of the thorax or deformity of the chest wall. These malformations are either congenital or acquired. Congenital forms of thoracic deformities show up in the majority of the

Foot-and-mouth disease is a notifiable disease that is transmitted by viruses and mainly affects ungulates.

Townes-Brocks syndrome is a genetic disease that is associated with a number of typical malformations of the body. The disease is inherited in an autosomal dominant way. The deformities

Oligohydramnios is one of the possible complications during pregnancy. The amniotic sac does not have enough amniotic fluid.

Hemangioblastomas are vascular neoplasms that occur in the central nervous system. The disease shows up in the majority of cases in young adults. Basically, hemangioblastomas represent a benign form of

Multiple cartilaginous exostoses are multiple and hereditary exostoses. The benign bone tumors are based on an autosomal dominant hereditary mutation. The treatment consists largely of surgical removal of the tumors.

The megalomania (also known as megalomania) describes an overestimated self-esteem to an extreme degree. This concerns, for example, the delusional idea of ​​being an important person or figure (with a mission). The megalomania often occurs as

With iris heterochromia, the rain skins of both eyes are of different colors. Mostly the phenomenon goes back to a congenital anomaly, a syndrome or an inflammation and a depigmentation caused in this way. Many heterochromies do not need one

In progressive bulbar palsy, the motor cranial nerve nuclei of the trigeminal, facial, glossopharyngeal, vagus and hypoglossal nerves die. This loss leads to paralysis of the face and esophagus. Similar symptoms

The diagnosis of Hurler's disease is associated with enormous psychological and physical stress not only for those affected, but also for the parents, as the disease is not only extremely complex, but also serious symptoms

The tracheo-oesophageal fistula connects the windpipe with the esophagus, causing symptoms such as coughing fits and food aspiration. The phenomenon is usually congenital and in this case is usually associated with a malformation