New genetic variants that may modify disease severity in spinal muscular atrophy

Takeaway

  • The identification and analysis of single nucleotide variants in patients with spinal muscular atrophy (SMA) may provide valuable insight into new potential therapeutic targets for intensive therapies.

Why this matters

  • SMA has a striking spectrum of severity, ranging from severe antenatal to mild adult onset motor deficits.

  • Gaining further understanding of the genetic modifiers of the disease may help to provide further insight into the cellular processes and pathways that are affected in SMA and help to pave the way for new therapeutic targets.