A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with a carrier frequency of 1 in 41 in Australia. Childhood SMA is classified into three types based on the age at which children present with symptoms and the clinical severity. Families' experiences leading up to th...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Lawton, Sally, Hickerton, Chriselle, Archibald, Alison D, McClaren, Belinda J, Metcalfe, Sylvia A
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2015
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402625/
https://ncbi.nlm.nih.gov/pubmed/25074464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.147
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