Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy.

ABSTRACT: Spinal muscular atrophy 5q (SMA5q) is one of the most severe and common genetic diseases. In the natural course, the disease leads to premature death (in acute forms) or severe motor disability (in chronic forms). As the genetic basis of SMA is very homogenous, the diagnostics are based entirely on simple and sensitive genetic testing. In the last few years, innovative methods of therapy have been developed based on SMN2 gene modification, such as splicing, or replacement of the damaged SMN1 gene (gene therapy). Although these approaches have shown high efficacy, results depend on the age/disease stage at which therapy is initiated. The best results have been obtained in presymptomatic patients. Indeed, introduction of therapy in the pre- or early symptomatic stage of the dis

SUBMITTER: Jedrzejowska M 

PROVIDER: S-EPMC7751307 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature