Resultat av tysk screeningspilotstudie av nyfödda med spinal muskelatrofi (SMA)

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10 patients with 2 or 3 SMN2 copies were treated with Nusinersen, starting between 15– 39 days after birth, in 7/10 patients before onset of symptoms.Presymptomatically treated patients (age at last examination: 1– 12 months, median 8 months) showed no muscle weakness by the age of one month to one year. Newborn screening, resulting in presymptomatic treatment, improves outcome in children with genetically proven SMA. Newborn screening for SMA should be introduced in all countries where therapy is available.

 

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Liz

Until those day, was my kiss of death been stronger than those of the devil. I like to ride through hellfire with him ,when I come out victorious afterwards. I'm strong and proud rheumatoid arthritis warrior Följ mig, tack! Liz - Fotoblogg Spelblogg

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