A new open-access study published in the European Journal of Neurology explores the genetic factors behind late-onset axial myopathy, a condition that causes progressive weakness in the spine-supporting muscles and leads to bent spine syndrome (camptocormia).

Researchers from Finland and Italy analyzed a cohort of 55 Finnish adult patients and discovered that 16% carried heterozygous truncating variants in the TTN (titin) gene (TTNtv). This represents a significant 14-fold over-representation compared to the general population, pointing to a strong link between these rare genetic variants and adult-onset paraspinal muscle weakness.

The findings expand the known clinical spectrum of titinopathies and emphasize the importance of including TTN in genetic testing panels for patients presenting with unexplained axial myopathy.