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Article

Spinal muscular atrophy: a time for screening

9 Sept 2010

Abstract excerpt

PURPOSE OF REVIEW: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. Even though a specific therapy for SMA is not currently available, a newborn screening test may allow the child to be enrolled in a clinical trial before irreversible neuronal loss occurs and enable patients...

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PMID: 20829691
DOI: 10.1097/mop.0b013e32833f3046

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