Hundreds of health rare diseases diseases can now be diagnosed through a biological sample test.
Those affected by these diseases all face similar difficulties in their quest for a diagnosis, relevant information rare and diseases proper direction towards qualified professionals.
This complexity is reflected in the health various classifications provided by Orphanet.The more rare health accurate our analysis, the more we notice certain nuances.Due to the lack of sufficient scientific and canada medical knowledge, many patients are not diagnosed and their disease remains unidentified.Until now, in the field of medicine, a disease is defined as an alteration of the state of health, presenting as a unique pattern of symptoms with a single treatment.To date, the cause remains unknown for many rare diseases.How many rare diseases are there?New hopes arise with the perspectives offered by European and national policies in many European countries in the field of rare diseases.Rare diseases are serious, often chronic and progressive, diseases.What is a rare disease?'Periodic disease' is rare in France, but common in Armenia.Orphanet provides an inventory of rare diseases and related information for over 6000 of these diseases, as well as a directory of expert resources in the countries of the consortium.
Those affected by rare diseases are also more psychologically, socially, economically and vice culturally vulnerable.
For a long time, doctors, researchers and policy makers were unaware of maroto rare diseases and until very recently there was no real research or public health policy concerning issues related to the disorder field.
Whether a pattern is considered unique depends canada entirely on the level of definition of our analysis.
Impressive progress has already been made for certain diseases, which shows that we must not give up the fight, but on the contrary, continue and step up efforts in the fields of research and social canada solidarity.
Knowledge of the natural history of these diseases is improved by the creation of registries.Last update: 25/10/12, about rare diseases policies.These are the people who suffer the most from difficulties in receiving appropriate support.There fifa are also very rare forms of infectious diseases, such as auto-immune diseases and rare cancers.This is the case of thalassemia, an anaemia of genetic origin, which is rare in Northern Europe, court but it is frequent in the Mediterranean region.These difficulties could be overcome by appropriate policies.Researchers are increasingly working through networks in order to share the results of their research and to advance more efficiently.In Europe, a disease is considered to be rare when it affects 1 person per 2000.There is no cure for most rare diseases, but the appropriate treatment and medical care can improve the quality of life of those affected and extend their life expectancy.The number of rare diseases also depends on the degree of specificity used when classifying the different entities/disorders.What file are the medical and social consequences of the rarity of these diseases?While nearly all genetic diseases are rare diseases, not all rare diseases are genetic diseases.For many rare diseases, signs may be observed at birth or in childhood, as is the case of proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia or Rett syndrome.A disease can be rare in one region, but common in another.