Sma clinical data, outcome measures and registries

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in SMN1 gene, characterized by degeneration and loss of motor neurons in the anterior horn of the spinal cord. SMN2, a homologous copy of SMN1, is considered a phenotypic modifier of the disease. However, unrelated SMA patients with the same SMN2 copy number but different phenotypes and intrafamilial phenotype discordance in haploidentical siblings have been extensively described. The aim of this study was to provide a phenotypic comparison in a series of Argentinean siblings with SMA.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research