Pre-symptomatic diagnosis and treatment: A game changer for SMA
28 Feb 2025
byDr. Astrid Blaschek, Dr von Hauner Children's Hospital, Munich, Germany
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease that typically begins to manifest in infancy or childhood. Early diagnosis and prompt treatment before symptom onset can significantly improve clinical outcomes, including survival and attainment of motor milestones. At an industry-sponsored symposium co-organized by the Hong Kong Society of Neuromuscular Diseases (HKSNMD), Dr Astrid Blaschek of Dr von Hauner Children's Hospital in Munich, Germany, discussed implementation of the genetic newborn screening (NBS) programme for SMA in Germany and her clinical experience in managing children with SMA with available disease-modifying therapies, including risdiplam.