[HTML][HTML] Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes… - Neuromuscular …, 2018 - Elsevier
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the
survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births.
In 2007, an International Conference on the Standard of Care for SMA published a
consensus statement on SMA standard of care that has been widely used throughout the
world. Here we report a two-part update of the topics covered in the previous
recommendations. In part 1 we present the methods used to achieve these …