Skip to Main Content

Abstract  Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis associated with muscular atrophy. Childhood SMA is a frequent recessive autosomal disorder and represents a common genetic cause of death in childhood. A positional cloning strategy allowed the localization and the identification of the survival of motor neuron gene (SMN). These developments have greatly improved the clinical management and family planning options of SMA patients and their parents. Furthermore, the presence or the absence of a SMN gene defect contributed to a better nosology of SMA-related diseases. The last 10 years saw major advances in the field of SMA. The function of the SMN gene product has been, at least partly, elucidated, and mouse models of SMA have been created. These advances represent starting points for designing therapeutic strategies of this devastating neurodegenerative disease for which no curative treatment is known so far.

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.