, Ehlers-Danlos syndrome, Duchenne muscular dystrophy, smallpox, amyotrophic lateral sclerosis and Morgellons syndrome.To date, the number of known rare diseases fluctuates between 7,000 and 8,000; however, it should be noted that this is an ever-increasing figure, as doctors have increasingly effective diagnostic techniques in recognizing conditions that are still unknown; As a rule, rare diseases are debilitating conditions with a chronic / permanent character or with fatal consequences;
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) and proliferative diseases, better known as tumors;
Rare diseases, therefore, are mostly pathologies resulting from the mutation of one or more genes;
- Since the availability of adequate treatments is in the interest of a few patients, the medical-scientific community devotes little time and financial resources to the search for new treatments against rare diseases known so far.
This is the main reason why those suffering from a rare disease can hardly count on a therapy, which has purposes other than the simple "management" of symptoms; - When rare diseases are not the subject of scientific research and when there are no adequate treatments for them, experts define these conditions with the term orphan diseases.
A disease is called an orphan when it is rare, when it does not arouse particular scientific interests and, finally, when those affected cannot count on adequate treatments.
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