PABPN1 accumulation in oculopharyngeal muscular dystrophy diagnosis

Takeaway

  • Detection of nuclear insoluble PABPN1 accumulation is a safe, rapid and reliable tool for the diagnosis of oculopharyngeal muscular dystrophy (OPMD).

Why this matters

  • The diagnosis of OPMD is often challenging due to non-specific symptoms and histology.

  • Improving the speed and accuracy of OPMD diagnosis could result in earlier genetic counselling for individuals and their families.