ENFERMEDAD DE WERDNIG HOFFMANN PDF

Sindrome de Werdnig-Hoffmann, una enfermedad degenerativa fatal. Reporte caso clinico. Reporte de un caso clinico Rangel- Becerra, Wilmer. Children show a progressive deterioration that can result in death, as a result of respiratory failure between the first and second year of life.

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Sindrome de Werdnig-Hoffmann, una enfermedad degenerativa fatal. Reporte caso clinico. Reporte de un caso clinico Rangel- Becerra, Wilmer. Children show a progressive deterioration that can result in death, as a result of respiratory failure between the first and second year of life. Disease Werdnig-Hoffmann or infantile spinal muscular atrophy type I is the classic and most severe, and its frequency is the second fatal autosomal recessive disorder after cystic fibrosis.

Treatment is symptomatic, since there is no treatment for the progressive weakness caused by the disease, but additional care is of vital importance and is vital to monitor the respiratory system, it is common for people affected have complications. We report the case of an 8-month feminine infant who was admitted to the pediatric service of the City Hospital Enrique Tejera CHET and is diagnosed with Werdnig-Hoffmann syndrome with respiratory compromise.

El embarazo fue controlado en seis oportunidades. Imagen 1. Imagen 2. Siguiente: Sindrome de Werdnig-Hoffmann, una enfermedad degenerativa fatal.

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ENFERMEDAD DE WERDNIG-HOFFMANN PDF

Carrier testing[ edit ] Those at risk of being carriers of SMN1 deletion, and thus at risk of having offspring affected by SMA, can undergo carrier analysis using a blood or saliva sample. The American College of Obstetricians and Gynecologists recommends all people thinking of becoming pregnant be tested to see if they are a carrier. This situation will lead to a false negative result, as the carrier status will not be correctly detected by a traditional genetic test. In particular: Consider that routine newborn screening is gradually being introduced. Please update this article to reflect recent events or newly available information.

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Spinal muscular atrophy

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Enfermedad de Werdnig-Hoffmann

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Atrofia muscular espinal

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