P.272Cardiac troponin T (cTnT) as a highly sensitive parameter for spinal muscular atrophy (SMA) in a floppy infant


Studies with new therapeutics for SMA patients showed the best outcome when treatment was started pre-symptomatic. Thus, early detection, e.g. via genetic newborn screenings, is required. Pilot projects have already been implemented in a few countries. High costs and lack of availability of genetic testing in certain regions are challenging early access to treatment and require other screening methods. Studies in adults with neuromuscular diseases have shown elevated cTnT levels without cardiomyopathy.


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