Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy...

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Bibliografische gegevens
Gepubliceerd in:J Neuromuscul Dis
Hoofdauteurs: Glascock, Jacqueline, Sampson, Jacinda, Haidet-Phillips, Amanda, Connolly, Anne, Darras, Basil, Day, John, Finkel, Richard, Howell, R. Rodney, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Shieh, Perry B., Crawford, Thomas O., Kerr, Douglas, Jarecki, Jill
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: IOS Press 2018
Onderwerpen:
Research Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6004919/
https://ncbi.nlm.nih.gov/pubmed/29614695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-180304
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