Rare diseases can include chronic pathologies, disabilities and premature death frequently.
There are around 7,000 rare diseases generally caused by gen changes. The Information Center about Genetic and Rare Diseases, GARD, explains that their diagnostic can take many years, a reason why it is a complex process, both for the patient and his family. This is why the Health National Institute shares in its web page, a list of rare diseases, permanently updated according to the questions received by the GARD, and which is fed with other cases. This, with the purpose of supporting the people who have frequent doubts on the issue.
The most common pathologies of this type in the world are:
- Bruganda Syndrome. It affects 50 in 100 thousand people. This is an inherited disease characterized by an electrocardiographic, ECG, abnormality, and an increase of heart sudden death risk.
- Protoporphyria. This disease impacts 50 in 100 thousand people. This is a form of porphyria (extreme sensitivity to sun light) that varies in seriousness and can be very painful, and is the result of an enzyme deficiency.
- Guilliám-Barré. This self-immune neurologic disorder is suffered by 47.5 in 100 thousand people. The body’s immunity system attacks a part of the peripheral nervous system, the myelin, which is the insulation layer covering the nerves. When this happens, the nerves can’t send their signals in an efficacious manner, and the muscles lost their capacity to respond.
- Family melanoma. It refers to those cases in which two or more first degree relatives, such as father, brother or son, suffer a skin cancer called melanoma. This disease occurs when healthy cells start changing and growing up without control, forming a mass called tumor. 46.5 in 100 thousand people have this type of cancer.
Rare diseases are so defined because they are suffered by less than 50 in 100 thousand people.