Nutritional status of a large cohort of children with spinal muscular atrophy type 2 (SMA2)


SMA is a recessive disorder caused by mutations in the SMN1 gene characterised by progressive muscle weakness and atrophy. The clinical subtypes are based on age of onset and maximum motor milestones achieved. SMA2 patients present after 6 months and are able to sit but never achieve the ability to walk. Feeding difficulties and malnutrition have been described. The aim of this study is to assess nutrition in SMA2 and its impact on management and motor function. This is a retrospective study reviewing medical records of SMA2 patients followed at the Dubowitz neuromuscular centre (2008–2017).


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