In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy.

ABSTRACT: Until the recent development of disease-modifying therapeutics, spinal muscular atrophy (SMA) was considered a devastating neuromuscular disease with a poor prognosis for most affected individuals. Symptoms generally present during early childhood and manifest as muscle weakness and progressive paralysis, severely compromising the affected individual's quality of life, independence, and lifespan. SMA is most commonly caused by the inheritance of homozygously deleted SMN1 alleles with retention of one or more copies of a paralog gene, SMN2, which inversely correlates with disease severity. The recent advent and use of genetically targeted therapies have transformed SMA into a prototype for monogenic disease treatment in the era of genetic medicine. Many SMA-affected individuals receiving th

SUBMITTER: Ojala KS 

PROVIDER: S-EPMC7915832 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature