… Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disorder caused by
bi-allelic pathogenic variants in the SMN1 gene. 95% of … Spinal muscular atrophy (SMA) is a …

… Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes degeneration
… Positive SMA NBS results necessitate genetic counseling for the families; however, if the …

… information if the diagnosis of SMA is confirmed on molecular genetic testing. The number …
with genetic risk assessment and the use of family history and genetic testing to clarify genetic …

… Spinal muscular atrophy (SMA), an autosomal recessive … -wide genetic testing strategy will
be feasible with a single test. … genetic test will help facilitate the integration of more genetic …

… The term spinal muscular atrophy (SMA) is used to encompass a diverse group of … by
neurology at ∼5.5 months of age, where SMA genetic testing was sent and was positive (SMN1 0, …

… SMA prompts genetic testing or from population-based newborn screening (see section
Screening, … a patient with suspected SMA undergoes genetic testing as the initial diagnostic step. …

… genetics and natural history of spinal muscular atrophy (SMA… This review will focus on the
management of the adult SMA … be offered genetic counseling to discuss risk of transmission …

… Spinal muscular atrophy is associated with mutations in the SMN1 gene (SMA5q), and it is
… Currently, the diagnostics of SMA are based entirely on genetic testing. Citation5 The most …

… Newborn screening (NBS) for spinal muscular atrophy (SMA) has … However, not all newborns
identified with SMA will develop … While genetic confirmation of SMA is relatively easy and …

… to bringing awareness to Spinal Muscular Atrophy. We found the first gene therapy for SMA
to be onasemnogene, directly providing the survival motor neuron 1 (SMN1) gene to produce …