Résumé :
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Communication n° 90 INTRODUCTION : About 0.2 % of the disabled population suffer from an inherited Neuromsucular Disorders (NMD). There are no current data about Neuromuscular Diseases Incidence in our country.Each entity presents relative frequency. This fact brings about the need of carrying out multicenter studies. Objective : To present a preliminar Register of PNMD , to identify and follow up the PNMD (Pediatrics neuromuscular disorders) with multicenter participation .To study their origins and relationship with the migratory currents. Material Methods :Pediatricians and Neuropediatricians from Public and Private Institutions are invited to participate, keeping at the same time their positions as head physicians.Participants should submit the clinical data requested, and the pathologies and forms which will be sent to them, in order to enter all data in a Database and study the Epidemiology of this type of pathologie (from neonatal period until 17 years old). The protocol of PNMD require the combined of clinical, histological, molecular (in some of them), electrophysiologic studies. RESULTS : The total of patient were 138,the 55,79% had present neuropathies (2,90% lower motor neurone diseases, 2,17% neuropathies ,31,115% metaboliques- systemic,10,14% immunological disorders, 8,69% others) and 44,20% myopathies (8,69% ,structural disorders,10,86% Dystrophies, 2,88% muscle ion channel diseases and myasthenic syndromes, 1,45% exercise intolerance , 5,072% others ). CONCLUSIONS : The Register will allow an early approached diagnosis in PNMD. The most important aim of any research should be the prevention and the treatment. It will benefit patients, it will help us to give Genetic Advise and we will move forward in the Scientific Knowledge so far as we exchange opinions and participate jointly with the different intervening disciplines. The National Registry will allow us to create a database from the NEUROPEDIATRICS area, thus translating basic data to learn about cost benefits in the Health Area, among others.This require substantial research over years to come.
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