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Rare Diseases

Rare Diseases

Find the rare disease you are searching for, in the A to Z list. If the disease you are searching for is not listed, please contact Linha Rara.

In the European Union, rare diseases are considered those which have a prevalence of not more than 5 in 10,000 people considering the total population of the EU. It is estimated that there are between 5,000 and 8,000 different rare diseases, affecting, as a whole, between 6% and 8% of the population, which means that there are between 600,000 and 800,000 people with these diseases in Portugal.

Moreover, most of these people suffer from diseases whose prevalence is less than 1 in 100,000 people, i.e. affecting less than 100 people in the country. However, the collective weight of rare diseases reaches beyond the patients, their families and friends, especially when they suffer from more severe, disabling or difficult to control diseases.

These diseases can be mostly characterised as:

  • Serious chronic, degenerative diseases that usually put life at risk;
  • Disabling diseases, where the quality of life is compromised due to the lack of autonomy;
  • Diseases where the level of pain and suffering of the individuals and their families is high;
  • Diseases for which there is no effective cure, but with symptoms that can be treated to improve the quality of life and life expectancy.

80% of rare diseases have identified genetic origin. These relate to between 3% and 4% of births. Other rare diseases result from infections (bacterial or viral) and allergies or are due to degenerative causes that proliferate. Rare diseases are characterised by a wide variety of disorders and symptoms that present and vary not only from disease to disease, but also from patient to patient suffering from the same disease.

* Authors: Directorate-General of Health & EURORDIS * Sources: National Programme for Rare Diseases &
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