{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T19:36:14Z","timestamp":1790537774546,"version":"4.1.0"},"reference-count":7,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2018,11,12]],"date-time":"2018-11-12T00:00:00Z","timestamp":1541980800000},"content-version":"vor","delay-in-days":11,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>L\u2019\u00e9pid\u00e9miologie des amyotrophies spinales infantiles (ASI ou SMA pour <jats:italic>spinal muscular atrophy<\/jats:italic>) reste \u00e0 faire en France. Bien qu\u2019appartenant aux maladies rares, elle n\u2019en est pas moins fr\u00e9quente parmi les maladies g\u00e9n\u00e9tiques de l\u2019enfant. En l\u2019absence d\u2019un registre ou d\u2019une banque de donn\u00e9es vraiment op\u00e9rationnels, les diff\u00e9rents acteurs concern\u00e9s par la SMA sont condamn\u00e9s \u00e0 se r\u00e9f\u00e9rer aux seules donn\u00e9es de la litt\u00e9rature internationale. \u00c0 l\u2019heure o\u00f9 le comptage des individus pouvant potentiellement b\u00e9n\u00e9ficier de th\u00e9rapies innovantes comme le nusinersen devient un enjeu crucial, notamment pour les autorit\u00e9s de sant\u00e9, la fili\u00e8re de sant\u00e9 neuromusculaire Filnemus a pris l\u2019initiative de contribuer \u00e0 cet inventaire, \u00e0 l\u2019aide de son r\u00e9seau de centres de comp\u00e9tence et de r\u00e9f\u00e9rence. \u00c0 cet effet, deux enqu\u00eates, de port\u00e9e et de m\u00e9thodologie distinctes, ont \u00e9t\u00e9 r\u00e9alis\u00e9es ces derniers mois.<\/jats:p>","DOI":"10.1051\/medsci\/201834s209","type":"journal-article","created":{"date-parts":[[2018,11,12]],"date-time":"2018-11-12T08:51:51Z","timestamp":1542012711000},"page":"32-34","source":"Crossref","is-referenced-by-count":5,"special_numbering":"Hors s\u00e9rie n\u00b02","title":["Combien de patients atteints de SMA en France ?"],"prefix":"10.1051","volume":"34","author":[{"given":"J. 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