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Being a parent of a child with spinal muscular atrophy (SMA), a disease that causes progressive muscle weakness, involves a range of challenges. The purpose of this study was to explore what advice parents of children with severe SMA, in absence of…

BACKGROUND AND AIMS:: Children with severe spinal muscular atrophy have complex care needs due to progressive muscle weakness, eventually leading to respiratory failure. To design a care system adapted to families' needs, more knowledge about…

Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis.…
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