Article
[Spinal muscular atrophy : Time for newborn screening?]
Der Nervenarzt - 1 Dec 2017
Vill K, Blaschek A, Schara U, Kölbel H, Hohenfellner K, Harms E, Olgemöller B, Walter Maggie C, Müller-Felber W
Abstract excerpt
The most common neurodegenerative disease in childhood is spinal muscular atrophy (SMA). The severe infantile type 1 (Werdnig-Hoffman disease) makes 60% of SMA in total. These children usually die within 18 months without ventilation. New therapeutic approaches have led from the theoretical concept to randomized controlled clinical trials in patients. For the first time, a pharmacological treatment of SMA has...
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