{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T00:16:10Z","timestamp":1781309770712,"version":"3.54.1"},"reference-count":33,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"Sp. 1","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["biomedica"],"abstract":"<jats:p>Introducci\u00f3n. La atrofia muscular espinal es una enfermedad neurodegenerativa hu\u00e9rfana de origen gen\u00e9tico que afecta las neuronas motoras del asta anterior de la m\u00e9dula espinal, y produce atrofia y debilidad muscular. En Colombia, son pocos los estudios publicados sobre la enfermedad y no hay ninguno con an\u00e1lisis funcional.Objetivo. Caracterizar cl\u00ednica y funcionalmente una serie de casos de atrofia muscular espinal del centro-occidente colombiano.Materiales y m\u00e9todos. Se hizo un estudio descriptivo transversal, entre el 2007 y el 2020, de pacientes con diagn\u00f3stico cl\u00ednico y molecular de atrofia muscular espinal que consultaron en el centro de atenci\u00f3n. La evaluaci\u00f3n funcional se realiz\u00f3 con las escalas Hammersmith y Chop Intend. En la sistematizaci\u00f3n de los datos, se emple\u00f3 el programa Epi-Info, versi\u00f3n 7.0.Resultados. Se analizaron 14 pacientes: 8 mujeres y 6 hombres. La atrofia muscular espinal m\u00e1s prevalente fue la de tipo II, la cual se present\u00f3 en 10 casos. Se encontr\u00f3 variabilidad fenot\u00edpica en t\u00e9rminos de funcionalidad en algunos pacientes con atrofia muscular espinal de tipo II, cinco de los cuales lograron alcanzar la marcha. La estimaci\u00f3n de la supervivencia fue de 28,6 a\u00f1os.Conclusiones. Los hallazgos en el grupo de pacientes analizados evidenciaron que los puntajes de la escala de Hammersmith revisada y expandida, concordaron con la gravedad de la enfermedad.<\/jats:p>","DOI":"10.7705\/biomedica.6178","type":"journal-article","created":{"date-parts":[[2022,7,13]],"date-time":"2022-07-13T15:21:02Z","timestamp":1657725662000},"page":"89-99","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":5,"title":["Caracterizaci\u00f3n cl\u00ednica y funcional de pacientes con atrofia muscular espinal en el centro-occidente colombiano"],"prefix":"10.7705","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2627-4064","authenticated-orcid":false,"given":"Natalia","family":"Cardona","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2171-6000","authenticated-orcid":false,"given":"Sandra Jhoana","family":"Ocampo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8760-8147","authenticated-orcid":false,"given":"Jorge Mario","family":"Estrada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8006-9395","authenticated-orcid":false,"given":"Mar\u00eda Isabel","family":"Mojica","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1193-7184","authenticated-orcid":false,"given":"Gloria Liliana","family":"Porras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4444","published-online":{"date-parts":[[2022,5,1]]},"reference":[{"key":"108583","doi-asserted-by":"crossref","unstructured":"Tizzano EF, Finkel RS. 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