Together for Short Lives
Call the Helpline 0808 8088 100

[Spinal muscular atrophy : Time for newborn screening?]

Journal title
Der Nervenarzt
Publication year
2017
Author(s)
Vill, K.; Blaschek, A.; Schara, U.; Kolbel, H.; Hohenfellner, K.; Harms, E.; Olgemoller, B.; Walter, M. C.; Muller-Felber, W.
Pages
1358-1366
Volume
88
Number
12

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 been approved. The early detection of the disease is decisive for the success of therapy. All previous data suggest starting treatment early and when possible prior to the onset of symptoms considerably improves the outcome in comparison to a delayed start. The goal must be the presymptomatic diagnosis in order to initiate treatment before motor neuron degeneration. Technical and ethical prerequisites for a molecular genetic newborn screening are given.

Research abstracts