Carolle Laure KPOUMIE
Uncommon and orphandiseases are a reality throughout the sector and a real public health trouble in developing international locations. The superbprecariousnesswherein the populations staywillincreasetheir impact and theirgravity by means of the absence of statistics, technicalplatform, manner of detection, real presence of research and medicalresearch on theseterritories, lack of information of the detection, diagnosis, with out forgettingthat the way of care and prevention are from time to time inexistent or littleacknowledged and specificallypricey in nations in which the populations are terrible, with out mutual or social protection as in industrialized nations . rare issues represent a big and heterogeneous group of diagnoses of whichmany motive chronicdisabilitieswithwidespread impact at the lives of affectedindividuals and theirfamilies in addition to on the fitness-care device. everyindividualailmentis rare, howeverwhileconsidered as a set, rare disorders are not unusualwith a completeprevalence of about 6-8%. The scientificpresentation of these issues includes a large variety of symptoms and signs and symptoms, regularlyconcerning the anxiousdevice and ensuing in signssuch as highbrowdisability, neuropsychiatricdisorders, epilepsy and motordysfunction. The techniques for establishing an etiologicalanalysis in patients withuncommonproblems have progresseddramatically all throughlatestyears. With the advent of genomic screening methods, it’s been shownthat the cause isgenetic in most of the people of the patients and lots of willobtain an etiologicaldiagnosis in a scientific putting. but, there are numerous challenges in diagnosingtheseproblems and in spite of currentyears’ advances, a large widevariety of patients with rare disordersstill cross with out an etiologicalprognosis.
