Eight clinical measures can quantify 20-month disease progression in oculopharyngeal muscular dystrophy

Takeaway

  • Deterioration in oculopharyngeal muscular dystrophy is detectable by eight different clinical measures, irrespective of disease severity, during a period of only 20 months.

Why this matters

    Although oculopharyngeal muscular dystrophy is recognized as a slowly progressing muscle disease, its natural history remains unclear. This important longitudinal study reveals clinical outcome measures that quantify disease progression in oculopharyngeal muscular dystrophy within 20 months, meaning they could be used as biomarkers in clinical trials. The findings also suggest that weakness of the shoulder girdle is more sensitive to changes than oropharyngeal measurements.