Genetic disorders

Achondroplasia refers to a developmental genetic disease of the bones and cartilage. Why does this congenital disorder occur and what are its characteristic manifestations?

Fabry disease is a genetic disease. It is transmitted by genetic information from parents to offspring.

Huntington's disease is an inherited disease of genetic origin. The chance of transmission is up to 50%, even if only one parent suffers from the disease. Neurodegenerative disease gradually damages the nervous system and nervous tissue in the brain. Especially those parts that are responsible for motion control. It is most common in Europe, North America, much less in Africa and Asia.

Asperger's syndrome is an untreatable genetic brain disorder with a predominantly psychiatric symptomatology. It is a separate category within autism spectrum disorders. Its manifestations mainly affect social interaction, communication and imagination. They affect the patient's view of the world and the view of the patient by those around him.

Cystic fibrosis is an inherited disease in which chloride channels in cell membranes are disrupted. The disease is caused by a genetic mutation in the CF gene.

Tourette syndrome is a "rare" genetic disorder affecting about 1% of the population. It affects mostly men. It is characterised by neurological and psychiatric symptomatology dominated by tics, grimaces and obsessive swearing. Mild manifestations often go unnoticed, but the media sensation is the significant disability.