Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive,
neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor …

Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor
neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is …

Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported
incidence of∼ 1 in 10 000 live births and is second to cystic fibrosis as a common, life …

Purpose To evaluate the implementation of the first statewide newborn screening (NBS)
program for spinal muscular atrophy (SMA) in Australia. Processes that hinder and support …

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder
caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in …

Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons
associated with progressive muscle weakness and atrophy, is the most common genetic …

OBJECTIVE: To examine the natural history of spinal muscular atrophy (SMA) to gain further
insight into the clinical course and pathogenesis. STUDY DESIGN: Survival pattern, age of …

Background: Spinal muscular atrophy (SMA) is the most common inherited lethal disease of
children. Various genetic deletions involving the bi-allelic loss of SMN1 exon 7 are reported …

Purpose To describe our experience of offering simultaneous genetic carrier screening for
cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA). Methods …

Aim This study dynamically designed, evaluated, and implemented the components of an
Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy …