6. 3. 2020

We commemorated the Day of Rare Diseases

Butterfly wing disease, cystic fibrosis, phenylketonuria, spinal muscular atrophy, Tourette's or Stickler's syndrome - just a short account of nearly eight thousand rare diseases discovered so far in the world. In the Czech Republic, more than 600,000 people struggle with them. The General University Hospital in Prague (VFN) belongs to the European Reference Network of Centers for Rare Diseases and currently has several thousand patients in its care.

Rare is a disease that affects less than five in ten thousand. “Of the more than 6,000 genetically-related rare diseases, almost a quarter are hereditary metabolic disorders, accounting for over fourteen hundred different diseases. Eighty percent of these are affected by the central and peripheral nervous systems, often leading to delays in child development, intellectual insufficiency, muscle hypotonia, epilepsy, and impaired sensory organs. Hepatic and cardiac muscle involvement is also rare. Acquired rare diseases with complex multifactorial inheritance are, for example, rheumatological autoimmune diseases and tumor monogenic non-hereditary diseases. All childhood cancers and one fifth of adult cancers are rare diseases. ” said the Head of the Department of Pediatric and Adolescent Medicine of the General Teaching Hospital and the First Faculty of Medicine, prof. MUDr. Tomáš Honzík with the fact that about two thirds of rare diseases occur already in childhood. At the same time, statistics show that one third of children do not live to the age of five.

Learn more at press release.

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